Genomes and Genes
fukutin related protein
Gene Symbol: fukutin related protein
Description: fukutin related protein
Alias: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, fukutin-related protein
Publications104 found, 100 shown here
- New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Avenue Majida Boulila, 3029 Sfax, Tunisia
Neurogenetics 5:27-34. 2004..severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I)...
- Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington
The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital Campus, London, United Kindom
Am J Hum Genet 69:1198-209. 2001..Here we identify the gene for a new member of the fukutin protein family (fukutin related protein [FKRP]), mapping to human chromosome 19q13.3...
- Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
Ann Neurol 53:537-42. 2003..The other 18 had limb girdle muscular dystrophy (LGMD2I). Eleven showed a Duchenne-like course with loss of ambulation in the early teens while 7 had a milder phenotype...
- Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutationT Muller
Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, D 06097 Halle Saale, Germany
Neuromuscul Disord 15:372-6. 2005Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene...
- [Updates in muscular dystrophies]R Erazo-Torricelli
Servicio de Neuropediatria, Hospital Luis Calvo Mackenna, Santiago de Chile, Chile
Rev Neurol 39:860-71. 2004..The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects...
- Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri
Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Milano, Italy
Hum Mutat 29:258-66. 2008..5%; LGMD2D (alpha-sarcoglycan) 8.4%; LGMD2E (beta-sarcoglycan) 4.5%; LGMD2F (delta-sarcoglycan) 0.7%; LGMD2I (Fukutin-related protein) 6.4%; and undetermined 27.1%...
- Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophiesM R Ackroyd
Department of Cellular and Molecular Neuroscience, Hammersmith Hospital, Imperial College, London, UK
Brain 132:439-51. 2009Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, ..
- [Limb girdle muscular dystrophies]J Finsterer
Neurologische Abteilung, KA Rudolfstiftung, Wien, Osterreich
Nervenarzt 75:1153-66. 2004..1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). Cardiac involvement has been described for LGMD1B-E, LGMD2C-G, and LGMD2I...
- Molecular bases of autosomal recessive limb-girdle muscular dystrophiesV Nigro
Dipartimento di Patologia Generale e Centro di Eccellenza sulle Malattie Cardiovascolari, Seconda Universita degli Studi di Napoli, Telethon Institute of Genetics and Medicine TIGEM, Napoli, Italy
Acta Myol 22:35-42. 2003..LGMD2C), delta-sarcoglycan (LGMD2F), telethonin (LGMD2G), TRIM32 (LGMD2H), fukutin-related protein (LGMD2I) and titin (LGMD2J). There are, however, at least 25% of families who can be excluded from any known locus...
- Glycosylation defects in inherited muscle diseaseJ E Hewitt
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, United Kingdom
Cell Mol Life Sci 60:251-8. 2003..Two forms of congenital muscular dystrophy, Fukuyama-type and MDC1C, result from mutations in members of the fukutin family...
- Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanCheryl Longman
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, UK
Hum Mol Genet 12:2853-61. 2003..This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D...
- Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?Justin M Percival
Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA
Traffic 8:184-94. 2007..Here, we review the current understanding of the dynamic regulation of GC organization in skeletal muscle and focus on the targeting of fukutin, fukutin-related protein and large1 to the GC in muscle cells...
- Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathiesPrabhjit K Grewal
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Glycobiology 15:912-23. 2005..Thus, there may be functional redundancy between LARGE1 and LARGE2. Consistent with this idea, we show that alpha-DG is still fully glycosylated in kidney (a tissue that expresses a high level of LARGE2 mRNA) of Large(myd) mutant mice...
- New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutationA Yanagisawa
INSERM, U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
Neurology 69:1254-60. 2007..POMT2 mutations have recently been identified in Walker-Warburg syndrome and in a milder muscle-eye-brain disease-like form...
- Drosophila muscleblind is involved in troponin T alternative splicing and apoptosisMarta Vicente-Crespo
Department of Genetics, University of Valencia, Valencia, Spain
PLoS ONE 3:e1613. 2008..Such transition fails in the CTG repeat expansion disease myotonic dystrophy due, in part, to sequestration of MBNL proteins by CUG repeat RNA. Four protein isoforms (MblA-D) are coded by the unique Drosophila muscleblind gene...
- Muscular dystrophies due to glycosylation defectsFrancesco Muntoni
Department of Neuroscience, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
Neurotherapeutics 5:627-32. 2008..type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N)...
- Defective glycosylation in congenital muscular dystrophiesFrancesco Muntoni
Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
Curr Opin Neurol 17:205-9. 2004..This article provides an overview of the clinical, biochemical and genetic advances that have been made over the last year in this field...
- Glycosylation defects: a new mechanism for muscular dystrophy?Prabhjit K Grewal
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham, UK
Hum Mol Genet 12:R259-64. 2003..However, it is unlikely that these five glycosylation enzymes only have a role in glycosylation of alpha-dystroglycan and it is important that other protein targets are identified...
- Functional requirements for fukutin-related protein in the Golgi apparatusChris T Esapa
Department of Pharmacology, University of Oxford, Oxford, UK
Hum Mol Genet 11:3319-31. 2002..Additionally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a considerably milder allelic variant than MDC1C...
- Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging studyKarim Wahbi
Myology Institute, Pitie Salpetriere Hospital, APHP, Paris, France
Neuromuscul Disord 18:650-5. 2008..The aim of our study was to assess myocardial involvement in patients with LGMD2I, using physical examination, echocardiography, resting and 24-h ambulatory electrocardiogram and cardiac magnetic ..
- [Recent advances in congenital muscular dystrophy research]Ikuya Nonaka
National Center Hospital for Mental, Mervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
No To Hattatsu 37:115-21. 2005....
- Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the familiesA J van der Kooi
Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Neurology 68:2125-8. 2007..In 51% of all families a classifying diagnosis was made. Several new mutations in LGMD2A, B, and C patients have been found in this population...
- Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2ISilvia Torelli
Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Campus, UK
Neuromuscul Disord 15:836-43. 2005..MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown...
- Brain MRI abnormalities in muscular dystrophy due to FKRP mutationsSusana Quijano-Roy
Unité de Neurologie Pediatrique, Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, 92380, Garches, France
Brain Dev 28:232-42. 2006FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I)...
- Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complexAaron M Beedle
Howard Hughes Medical Institute HHMI, Departments of Molecular Physiology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 282:16713-7. 2007..These data offer the first evidence of an FKRP complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex...
- A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutationUluc Yis
Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey
Eur J Paediatr Neurol 11:46-9. 2007..A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD...
- Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsDirk Fischer
Dept of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
J Neurol 252:538-47. 2005..fukutin-related protein (FKRP) have recently been demonstrated to cause limb girdle muscular dystrophy type 2I (LGMD2I), one of the most common forms of the autosomal recessive LGMDs in Europe...
- Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonanceC Gaul
Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Strasse 40, 06097, Halle Saale
J Neurol 253:1317-22. 2006..in the fukutin-related protein (FKRP) gene is typically associated with autosomal recessive limb-girdle muscular dystrophy 2I (LGMD2I) but oligosymptomatic phenotypes and patients with predominant cardiac involvement are also described.
- Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2IEva Stensland
Department of Habilitation, University Hospital of North Norway, Tromsø, Norway
Neuromuscul Disord 21:41-6. 2011Mutations in the FKRP (Fukutin Related Protein) gene produce a range of phenotypes including Limb Girdle Muscular Dystrophy Type 2I (LGMD2I)...
- A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrumJ van Reeuwijk
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Clin Genet 78:275-81. 2010..The clinical phenotype of the patients was consistent with Walker-Warburg syndrome, the most severe disorder in the disease spectrum of dystroglycanopathies...
- A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCecilia Jimenez-Mallebrera
Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
Brain Pathol 19:596-611. 2009..These data indicate that it is not always possible to correlate clinical course and alpha-dystroglycan labeling and suggest that there might be differences in alpha-dystroglycan processing in these disorders...
- Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onsetAkanchha Kesari
Research Center for Genetic Medicine, Children s National Medical Center, Washington DC 20010, USA
Am J Pathol 173:1476-87. 2008..muscle mRNA profiles from 10 mutation-positive LGMD2B/MM patients were compared with a disease control [LGMD2I; (n = 9)], and normal muscle samples (n = 11)...
- Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotypeUluc Yis
Gaziantep Children s Hospital, Department of Pediatric Neurology, Gaziantep, Turkey
Neuromuscul Disord 21:20-30. 2011..muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes...
- Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2IMarta Margeta
Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW 514, San Francisco, California 94143, USA
Muscle Nerve 40:883-9. 2009....
- POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophiesTamao Endo
Molecular Glycobiology, Tokyo Metropolitan Institute of Gerontology, Itabashi ku, Tokyo, Japan
Methods Enzymol 479:343-52. 2010..This chapter describes the assay protocols to diagnose patients with alpha-dystroglycanopathy by measuring glycosyltransferase activity...
- Genes required for functional glycosylation of dystroglycan are conserved in zebrafishChristopher J Moore
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Genomics 92:159-67. 2008..These data indicate that the dystroglycan glycosylation pathway is conserved in zebrafish and suggest this organism is likely to be a useful model system for functional studies...
- POMT1 and POMT2 mutations in CMD patients: a multicentric Italian studyS Messina
Department of Paediatric Neurology, Catholic University, Policlinico Gemelli, 00168 Rome, Italy
Neuromuscul Disord 18:565-71. 2008..Our results provide further evidence that, as previously reported for FKRP, the array of mutations in POMT1 and POMT2 is ample and the spectrum of associated phenotypes is wider than initially thought...
- Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palateJiri Vajsar
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont, Canada M5G 1X8
Neuromuscul Disord 18:675-7. 2008..We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first...
- Diagnosis and etiology of congenital muscular dystrophyR A Peat
Institute for Neuromuscular Research, The Children s Hospital at Westmead, Sydney, NSW, Australia
Neurology 71:312-21. 2008..We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort...
- cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in DenmarkMorten Duno
Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
Eur J Hum Genet 16:935-40. 2008..Four of these patients were shown to have LGMD2I upon molecular analysis, whereas 16 of the remaining 42 patients harbored mutations in CAPN3 by both direct ..
- Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophyJorge Oliveira
Unidade de Genética Molecular, Centro de Genética Médica Dr Jacinto Magalhães, INSA, Porto, Portugal
J Hum Genet 53:565-72. 2008..To aid clinical diagnosis, we generated publicly available LOVD-powered Locus Specific Databases for these three genes and recorded all known sequence variants ( http://www.dmd.nl )...
- Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)Paul Thornhill
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
Brain 131:1551-61. 2008..Further characterization of the developmental processes affected in FKRP morphant embryos may lead to a better understanding of the pathological spectrum observed in muscular dystrophies associated with mutations in the human FKRP gene...
- Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutationsM Kefi
Department of Neurology, National Institute of Neurology, Tunis, Tunisia
Neuropediatrics 39:113-5. 2008Mutations in the gene encoding fukutin-related protein (FKRP) cause limb-girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophy (MDC1C)...
- Muscular dystrophies due to defective glycosylation of dystroglycanF Muntoni
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
Acta Myol 26:129-35. 2007..Systematic mutation analysis of these 6 glycosyltransferases in patients with a dystroglycan glycosylation disorder identifies mutations in approximately 65% suggesting that more genes have yet to be identified...
- Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophyMarie Louise Sveen
Neuromuscular Research Unit 3342, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Arch Neurol 65:1196-201. 2008..To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD)...
- Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionMaisoon Alhamidi
Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
PLoS ONE 6:e22968. 2011Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3)...
- Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2IXiomara Q Rosales
Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
J Cardiovasc Magn Reson 13:39. 2011..Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B) and fukutin related protein (LGMD2I)...
- Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathiesYung Yao Lin
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Hum Mol Genet 20:1763-75. 2011..Together, our results suggest that Fukutin family proteins may play important roles in protein secretion and that the UPR may contribute to the phenotypic spectrum of some dystroglycanopathies in humans...
- Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2IA Palmieri
Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121 Padua, Italy
J Neurol 258:1312-20. 2011..It is caused by mutations in the Fukutin Related Protein (FKRP) gene, which is ubiquitously expressed in human tissues. FKRP functions in CNS are largely unknown...
- Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Chi Hsien Wang
Division of Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA
Am J Pathol 178:261-72. 2011Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein (FKRP) gene...
- SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patientsLea Papić
Department of Internal Medicine, Division of Diabetes and Metabolism, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria
Eur J Med Genet 54:214-9. 2011..However, a mutation in CAV3 could not be detected. Homozygosity mapping revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c...
- Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathiesYiumo Michael Chan
McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA
Hum Mol Genet 19:3995-4006. 2010..The mutant mouse represents a valuable model to further elucidate the functions of FKRP and develop therapies for FKRP-related muscular dystrophies...
- Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndromeMorio Ueyama
Department of Bioinformatics, Soka University, Hachioji, Tokyo, Japan
PLoS ONE 5:e11557. 2010..In this paper, we propose a novel mechanism for the development of muscular dystrophy: POMT mutation causes high myoblast density and position derangement, which result in apoptosis, muscle disorganization, and muscle cell defects...
- Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM Chiara Manzini
Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
Hum Mutat 29:E231-41. 2008..Notably, the FCMD gene was a more common cause of WWS than previously expected in the European/American subset of our cohort, including all Ashkenazi Jewish cases, who carried the same founder mutation...
- Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalitiesAmy R Frost
Department of Clinical Genetics, Guy s and St Thomas NHS Foundation Trust, London, UK
Eur J Hum Genet 18:852-5. 2010....
- Zebrafish models for human FKRP muscular dystrophiesGenri Kawahara
Division of Genetics, Program in Genetics, Harvard Medical School, Children s Hospital, Boston, MA, USA
Hum Mol Genet 19:623-33. 2010..Co-injection of the human FKRP mRNA containing causative mutations found in human patients of WWS, MDC1C and LGMD2I could not restore their phenotypes significantly...
- Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotypeS Vuillaumier-Barrot
AP HP, Hopital Bichat Claude Bernard, Biochimie Métabolique et Cellulaire, 46 rue Henri Huchard, Paris 75018, France
Neuromuscul Disord 19:182-8. 2009..Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP...
- POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardationAkiko Yanagisawa
INSERM, U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, UPMC University Paris 06, UMR_S582, IFR14, Paris, France
Eur J Med Genet 52:201-6. 2009..To date POMT2 mutations have been identified in CMD cases with a wide range of clinical severities from Walker-Warburg syndrome to limb girdle muscular dystrophy without structural brain or ocular involvement...
- [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]Terumi Murakami
Department of Pediatrics, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku, Tokyo 162 8666, Japan
Brain Nerve 60:1159-64. 2008..Therefore, clinicians should always bear in mind the possibility of alpha-DGP when they have a patient suspected to have muscular dystrophy...
- [Congenital muscular dystrophy and alpha-dystroglycanopathy]Fumiaki Saito
Department of Neurology, Teikyo University School of Medicine
Rinsho Shinkeigaku 48:543-9. 2008..Fukuyama-type CMD and MDC1C are caused by mutations in the fukutin and fukutin-related protein (FKRP) genes, respectively...
- Fukutin-related protein alters the deposition of laminin in the eye and brainMark R Ackroyd
Department of Veterinary Basic Sciences, Royal Veterinary College, University of London, London NW1 0TU, UK
J Neurosci 31:12927-35. 2011....
- Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathyAdele d'Amico
Molecular Medicine, Bambino Gesu Children s Research Hospital, P zza S Onofrio 4, 00165 Rome, Italy
Neuromuscul Disord 18:153-5. 2008..Our findings add to the array of clinical presentations of FKRP mutations...
- Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?E Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
Neuropediatrics 31:186-9. 2000..Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD...
- The mildest known case of Fukuyama-type congenital muscular dystrophyTomoyuki Akiyama
Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
Brain Dev 28:537-40. 2006..Another possibility is the abnormalities in other genes involved in the glycosylation of alpha-dystroglycan, such as Fukutin-related protein and LARGE genes...
- LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effectClaudia Di Blasi
Divisions of Neuromuscular Diseases, Istituto Nazionale Neuorlogico C Besta, Bicocca Laboratories, Milano, Italy
Arch Neurol 62:1582-6. 2005..To determine if laminin-alpha2 deficiency is due to mutations in the LAMA2 gene or secondary to mutations in other congenital muscular dystrophy genes...
- Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cellsN F Dolatshad
Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London W12 ONN, UK
Exp Cell Res 309:370-8. 2005..Immunolabelling of FKRP in the muscle of MDC1C and LGMD2I patients was found to be indistinguishable from normal controls...
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
J Med Genet 42:907-12. 2005..patients, hypoglycosylation results from mutations in either the protein O-mannosyltransferase 1 (POMT1), fukutin, or fukutin related protein (FKRP) genes. The other genes for this highly heterogeneous disorder remain to be identified.
- LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotypeMarianne Schwartz
Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Neurology 64:1635-7. 2005..A point mutation, L276I has been found in all patients with LGMD2I studied so far...
- LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 geneA Saenz
Unidad Experimental, Hospital Donostia, San Sebastian, Basque Country, Spain
Brain 128:732-42. 2005..Of the cases where the CAPN3 gene was not affected, approximately 20% were diagnosed as LGMD2I muscular dystrophy, while facioscapulohumeral muscular dystrophy (FSHD) was uncommon in this sample...
- Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cellsChristopher T Esapa
Department of Pharmacology, University of Oxford, UK
Hum Mol Genet 14:295-305. 2005..a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation...
- The role of defective glycosylation in congenital muscular dystrophyHarry Schachter
Department of Structural Biology and Biochemistry, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont M5G 1X8, Canada
Glycoconj J 20:291-300. 2004..It is expected other congenital muscular dystrophies will prove to have mutations in genes involved in glycosylation...
- Subcellular localization of fukutin and fukutin-related protein in muscle cellsHiroshi Matsumoto
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
J Biochem 135:709-12. 2004..Our data suggest that fukutin and FKRP may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis...
- Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB lociB Talim
Department of Pediatric Pathology, Hacettepe Children s Hospital, Ankara, Turkey
Neuromuscul Disord 10:548-52. 2000..We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy...
- Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophiesSusan C Brown
Dubowitz Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
Am J Pathol 164:727-37. 2004We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I)...
- Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutationTamar Harel
Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
Eur J Hum Genet 12:38-43. 2004..been implicated in causing congenital muscular dystrophy 1C (MDC1C), and has recently been shown to be mutated in LGMD2I. We identified a novel missense mutation in exon 4 of the FKRP gene in all the patients studied...
- A single human myosin light chain kinase gene (MLCK; MYLK)V Lazar
Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21224, USA
Genomics 57:256-67. 1999....
- Protein defects in neuromuscular diseasesM Vainzof
Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
Braz J Med Biol Res 36:543-55. 2003..The main objective of this review is to summarize the most recent findings in the field and our own contribution...
- The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2IMartin Brockington
Neuromuscul Disord 12:233-4. 2002
- Walker-Warburg syndromeJiri Vajsar
Division of Child Neurology, The Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, ON, Canada
Orphanet J Rare Dis 1:29. 2006..Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive...
- A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2IYi Ching Lin
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
Brain Dev 29:234-8. 2007..Genetic analysis of fukutin-related protein (FKRP) gene revealed a novel compound heterozygous mutation of c.823C>T (p.R275C) and c.948delC, confirming the diagnosis of LGMD2I, the first reported case in East Asia.
- LGMD2I in a North American populationPeter B Kang
Program in Genomics, Children s Hospital Boston and Harvard Medical School, Boston, USA
BMC Musculoskelet Disord 8:115. 2007There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).
- Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2IChiara A Boito
Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
Virchows Arch 451:1047-55. 2007Limb girdle muscular dystrophy type 2I (LGMD2I) is due to mutations in the fukutin-related protein gene (FKRP), encoding a putative glycosyltransferase involved in alpha-dystroglycan processing...
- Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesisHarriet P Lo
Institute for Neuromuscular Research, The Children s Hospital at Westmead, Sydney, Australia
Neuromuscul Disord 18:34-44. 2008..In contrast to European populations, cases of LGMD2I (due to mutations in FKRP) are rare in Australasia (3%)...
- Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey
Dubowitz Neuromuscular Unit, Hammersmith Hospital, Imperial College, London, UK
Brain 130:2725-35. 2007..Mutations in these five glycosyltransferase genes were detected in 34% of patients indicating that, after the exclusion of FKRP, the majority of patients with a dystroglycanopathy harbour mutations in novel genes...
- Molecular heterogeneity in fetal forms of type II lissencephalyC Bouchet
Assistance Publique Hopitaux de Paris APHP, Bichat Claude Bernard Hospital, Biochimie Métabolique, Paris, France
Hum Mutat 28:1020-7. 2007..The other genes, FKRP, FCMD, and LARGE, seem not to be implicated in the fetal form of CMD...
- Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivoElizabeth Keramaris-Vrantsis
McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA
Muscle Nerve 36:455-65. 2007..The complexity of the effect of individual missense point mutations may partly explain the wide variation of the FKRP-related myopathies...
- POMT2 mutation in a patient with 'MEB-like' phenotypeE Mercuri
Eugenio Mercuri Department of Paediatric Neurology, Child Neurology Unit, Catholic University, Rome, Italy
Neuromuscul Disord 16:446-8. 2006..Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity...
- Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2IN Darin
Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
Eur J Paediatr Neurol 11:353-7. 2007..We describe two patients with LGMD2I and a Duchenne-like phenotype...
- The congenital muscular dystrophies: recent advances and molecular insightsJerry R Mendell
Department of Pediatrics, Columbus Children s Hospital and Research Institute and The Ohio State University, 700 Children s Drive, Columbus, OH 43205, USA
Pediatr Dev Pathol 9:427-43. 2006..g., family history, central nervous system features) can help guide the battery of immunostains necessary to target an unequivocal diagnosis...
- Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2IN M Vieira
Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Brazil
Neuromuscul Disord 16:870-3. 2006..The two oldest sisters with a severe phenotype carried two maternal mutations V79M and P89A. However, the youngest sister with a milder course carried the paternal and only the V79M maternal mutation, due to an intragenic recombination...
- A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complexHeather MacLeod
Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
Neuromuscul Disord 17:285-9. 2007Mutations in the gene encoding fukutin related protein (FKRP) produce a spectrum of disease including congenital muscular dystrophy and limb girdle muscular dystrophy...
- Endurance training: an effective and safe treatment for patients with LGMD2IM L Sveen
Department of Neurology 2082, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
Neurology 68:59-61. 2007We studied the effect of aerobic training on conditioning in patients with limb-girdle muscular dystrophy type 2I (LGMD2I). Nine patients with LGMD2I cycled fifty 30-minute sessions at 65% of their maximal oxygen uptake over 12 weeks...
- Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalitiesClaudia Weiss
Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
Muscle Nerve 35:396-401. 2007..In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype...
- Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CM Brockington
Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
Hum Mol Genet 10:2851-9. 2001..Both MDC1C and LGMD2I map to an identical region on chromosome 19q13.3...
- Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2IChiara A Boito
Department of Neurosciences, University of Padova, Italy
Arch Neurol 62:1894-9. 2005..Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation...
- FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cystsH Topaloglu
Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey
Neurology 60:988-92. 2003..fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C) and a milder limb girdle dystrophy (LGMD2I). Both forms have secondary deficiencies of laminin alpha2 and alpha-dystroglycan immunostaining...
- Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2IA Driss
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
Neurology 60:1341-4. 2003The authors mapped an autosomal recessive form of limb-girdle MD on chromosome 19q13.3 (LGMD2I), further narrowed down the candidate region to 1...
- The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk
Department of Biochemistry, University of Manitoba, Winnipeg, Canada
Hum Mutat 25:38-44. 2005..A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c...
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyE Mercuri
Department of Child Neurology, Policlinico Gemelli, Largo Gemelli, 00168 Rome, Italy
Neurology 72:1802-9. 2009..Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases...
- LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filamentsP Reilich
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
Acta Myol 25:73-6. 2006..Mutations of FKRP have been reported in congenital muscular dystrophies, LGMD2I, cardiomyopathy and hyperCKemia, but not in myopathies with vacuoles and paired-helical filaments...
- Muscular Dystrophy Cooperative Research CenterKevin Campbell; Fiscal Year: 2007..Project 2 (Mathews, Campbell, Weiss and Romitti) will study muscular dystrophy patients with fukutin related protein mutations and develop mouse models in order to understand the pathogenesis of this disease and possible ..
- Lectin Resistant Tumor Cells And Functional GlycomicsPAMELA M STANLEY; Fiscal Year: 2010..The biochemical and genetic basis of new phenotypes will then be determined. ..
- Lectin Resistant Tumor Cells And Functional GlycomicsPamela Stanley; Fiscal Year: 2009..The biochemical and genetic basis of new phenotypes will then be determined. ..
- Lectin Resistant Tumor Cells And Functional GlycomicsPamela Stanley; Fiscal Year: 2007..The biochemical and genetic basis of new phenotypes will then be determined. ..
- Anatomic variations in muscle gene expressionPeter Kang; Fiscal Year: 2007..Proteins that are determined to interact with dysferlin and dystrophin may be potentially targets for pharmacologic therapies. ..
- The role of ATP-sensitive potassium channels in neurodegenerationMarta Margeta; Fiscal Year: 2007..The research proposed in this project will yield important insight into the pathogenesis of PD and potentially aid in development of new treatments for PD and other neurodegenerative diseases. ..
- Gentamicin Trial in Duchenne and Limb Girdle DystrophiesJerry Mendell; Fiscal Year: 2004..Gentamicin will also be used to treat limb girdle muscular dystrophy subjects with stop codon mutations. If the serum CK is lowered, the potential for long-term treatment will be established for these patients. ..