Genomes and Genes
fukutin related protein
Gene Symbol: fukutin related protein
Description: fukutin related protein
Alias: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, fukutin-related protein
Publications153 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) 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- Mutations alter secretion of fukutin-related proteinPei J Lu
McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, 1000 Blythe Blvd Charlotte, NC 28231, USA
Biochim Biophys Acta 1802:253-8. 2010Mutations in the fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) as well as other severe muscle disorders, including Walker-Warburg syndrome, muscle-eye-brain disease, and congenital muscular ..
- 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, ..
- 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...
- 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...
- 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 ..
- 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 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...
- 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....
- 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...
- 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...
- Glyc-O-genetics of Walker-Warburg syndromeJ van Reeuwijk
Department of Human Genetics, Radboud University Nijmegen Medical Center, The Netherlands
Clin Genet 67:281-9. 2005..Perhaps, the missing genes underlying the remainder of the unexplained WWS patients have also to be sought in the pathways involved in O-linked protein glycosylation...
- Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsEugenio Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, United Kingdom
Arch Neurol 63:251-7. 2006..To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations...
- High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in DenmarkMarie Louise Sveen
Department of Neurology, Neuromuscular Research Unit, National University Hospital, Rigshospitalet, Copenhagen, Denmark
Ann Neurol 59:808-15. 2006The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this and the genotype-phenotype relation in LGMD2I.
- Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patientsH Bourteel
Service de Neurologie inflammatoire et infectieuse, Hopital Roger Salengro, CHRU Lille, France
J Neurol Neurosurg Psychiatry 80:1405-8. 2009Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein gene FKRP, which is also involved in congenital muscular dystrophy (MDC1C).
- Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2IKieren G Hollingsworth
Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
Eur J Heart Fail 15:986-94. 2013The mechanisms of cardiac dysfunction in limb girdle muscular dystrophy 2I (LGMD2I) are unclear...
- Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functionsLei Xu
McColl Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas HealthCare System, Charlotte, North Carolina, USA
Mol Ther 21:1832-40. 2013..Only limited FKRP transgene expression was detected in kidney and liver with no detectable toxicity. Our results provided evidence for the utility of AAV-mediated gene replacement therapy for FKRP-related muscular dystrophies...
- 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndromeJohanna Christina Czeschik
Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany Electronic address
Eur J Med Genet 56:689-94. 2013..Here, we present a boy with WWS who showed compound heterozygous changes in ISPD and discuss the clinical and radiological phenotype and the molecular genetic findings, including a novel pathogenic mutation in ISPD...
- Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutationsMaina Kava
Division of Neurology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
Pediatr Neurol 49:374-8. 2013..The involvement of the eyes is variable, with most patients having normal eye examination...
- The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy miceCharlotte Whitmore
Comparative Biomedical Sciences, Royal Veterinary College, University of London, London NW1 0TU, UK
Hum Mol Genet 23:1842-55. 2014....
- Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related proteinCharles H Vannoy
1 McColl Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas HealthCare System, Charlotte, NC 28231
Hum Gene Ther Methods 25:187-96. 2014..Our findings suggest that AAV-mediated LARGE gene therapy may still be a viable therapeutic strategy for dystroglycanopathies with FKRP deficiency...
- Genetic basis of limb-girdle muscular dystrophies: the 2014 updateVincenzo Nigro
Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli and Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
Acta Myol 33:1-12. 2014..LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), ..
- Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene deliveryChunping Qiao
Division of Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, North Carolina, USA
Mol Ther 22:1890-9. 2014..FKRP) gene cause a wide spectrum of disease phenotypes including the mild limb-girdle muscular dystrophy 2I (LGMD2I), the severe Walker-Warburg syndrome, and muscle-eye-brain disease...
- Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of DystroglycanopathyHelen S Booler
Department of Comparative Biomedical Sciences, Royal Veterinary College, London, UK
Brain Pathol 26:465-78. 2016..Overall these observations implicate gene-specific differences in the pathogenesis of brain lesions in this group of disorders. ..
- FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathiesXiaona Fu
Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases, Department of Pediatrics, Peking University First Hospital, Beijing, China
J Hum Genet 61:1013-1020. 2016..muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I)...
- Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesisAdriana Izquierdo-Lahuerta
Departamento de Ciencias Básicas de la Salud, Area de Bioquímica, y Biologia Molecular, Facultad de Ciencias de la Salud, Universidad Rey Juan Carlos, Avda de Atenas s n 28922, Alcorcon, Madrid, Spain Electronic address
Biochem Biophys Res Commun 478:1043-8. 2016....
- Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for DystroglycanopathyHirokazu Yagi
From the Graduate School of Pharmaceutical Sciences, Nagoya City University, 3 1 Tanabe dori, Mizuho ku, Nagoya 467 8603, Japan
Mol Cell Proteomics 15:3424-3434. 2016..The simplified analytical workflow developed here should facilitate rapid mapping across a wider range of cell types to gain better insights into its physiological relevance...
- Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2iJoseph W Maricelli
School of Molecular Biology, Washington Center for Muscle Biology, Washington State University, Pullman, Washington, United States of America
PLoS ONE 11:e0161984. 2016Limb-girdle muscular dystrophy type 2i (LGMD2i) affects thousands of lives with shortened life expectancy mainly due to cardiac and respiratory problems and difficulty with ambulation significantly compromising quality of life...
- [Correlation between thigh muscle magnetic resonance imaging findings and clinical features of congenital muscular dystrophies: a preliminary study]L L Wang
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
Zhonghua Er Ke Za Zhi 54:756-760. 2016..type 1 (RSMD1), 1 case had LMNA related muscular dystrophy (L-CMD), 1 case had congenital muscular dystrophy 1C (MDC1C) and 3 cases had congenital muscular dystrophy 1A (MDC1A), with 4 were males and 4 females, aged from 0...
- 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...
- 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...
- 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...
- The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundariesJanbernd Kirschner
Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA
Arch Neurol 61:189-99. 2004....
- 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...
- Limb-girdle muscular dystrophies--from genetics to molecular pathologyS H Laval
Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK
Neuropathol Appl Neurobiol 30:91-105. 2004....
- FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patientsM C Walter
Gene Center, Friedrich Baur Institute, and Department of Neurology, Ludwig Maximilians University of Munich, Germany
J Med Genet 41:e50. 2004
- [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....
- A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophyClaudia A Browning
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Neuromuscul Disord 15:331-5. 2005..Thus, LARGE is a potential therapeutic target. Here, we define the intronic deletion breakpoints of the Large(myd) mutation and describe a simple, PCR-based diagnostic assay, facilitating the study of this important animal model...
- Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2IPatrick Frosk
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada
Eur J Hum Genet 13:978-82. 2005..1459G>A mutation in TRIM32 associated with LGMD2H. We have also identified Hutterite patients with LGMD2I, homozygous for the common c.826C>A mutation in FKRP...
- 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...
- Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancyMaja von der Hagen
Department of Paediatric Neurology, Children s Hospital, Technical University Dresden, Fetscherstrasse 74, 01307, Dresden, Germany
Eur J Pediatr 165:62-3. 2006
- Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP geneCostanza Lamperti
Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unità Operativa Neurologia, Fondazione I R C C S Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, University of Milan, Milan, Italy
J Neurol Sci 243:47-51. 2006..The analysis of FKRP, LARGE, POMT1 and POMGnT1 genes did not show any pathogenic mutations, suggesting that at least another gene may account for CMD with secondary glycosylated alpha-DG deficiency...
- 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...
- 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...
- 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)...
- Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectivesUmbertina Conti Reed
Departamento de Neurologia, Universidade de Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 67:343-62. 2009..abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/..
- 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)...
- Abnormal vascular development in zebrafish models for fukutin and FKRP deficiencyAlasdair J Wood
International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Hum Mol Genet 20:4879-90. 2011..Despite anecdotal reports about vascular abnormalities in patients affected by dystroglycanopathies, the clinical relevance of such lesions remains unclear and should be subject to further review and investigations...
- Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane
Department of Paediatric Neurology, Catholic University, Rome, Italy
Neuromuscul Disord 22:685-9. 2012..Cardiac or respiratory involvement was found in patients with mutations in FKRP, POMT1, POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function...
- Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Andrea Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland
Cerebellum 13:79-88. 2014..The peculiar combination of the same clinical and neuroimaging findings in our patients highly suggests that this phenotype may represent a novel entity, possibly falling within the spectrum of dystroglycanopathies. ..
- Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyTracey A Willis
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, Shropshire, United Kingdom
PLoS ONE 9:e90377. 2014..of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c...
- Autosomal recessive limb-girdle muscular dystrophies in the Czech RepublicKristyna Stehlikova
Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, Brno, 613 00, Czech Republic
BMC Neurol 14:154. 2014..In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes...
- Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophyLucia V Schottlaender
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
J Neurol Sci 348:266-8. 2015..Heterozygous carriers are usually clinically unaffected. We report a patient presenting later in life with life-threatening cardiac failure and we describe for the first time clinically manifesting carriers in the family. ..
- Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle RegenerationHiroyuki Awano
McColl Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Charlotte, North Carolina
Am J Pathol 185:2025-37. 2015..Identification of factors other than LARGE and FKRP could generate new approaches for restoration of F-α-DG in mature muscle fibers with defects in FKRP functions. ..
- Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutationsJ Svahn
Department of Clinical Neurophysiology, Hospices Civils de Lyon, Croix Rousse University Hospital, Lyon, France Electronic address
Neuromuscul Disord 25:865-8. 2015..The response to immune therapies suggested a possible inflammatory component associated with the muscular dystrophy and highlighted the potential benefit of corticosteroid treatment in patients with LGMD2I and subacute onset.
- A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in HumansThomas O Krag
From the Copenhagen Neuromuscular Research Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
J Neuropathol Exp Neurol 74:1137-46. 2015Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the Fukutin-related protein (FKRP) gene, leading to inadequate glycosylation of α-dystroglycan, an important protein linking the extracellular matrix to the ..
- The phenotype of limb-girdle muscular dystrophy type 2IM Poppe
Institute of Human Genetics, the University Newcastle upon Tyne, UK
Neurology 60:1246-51. 2003Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C).
- Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrumFlavia de Paula
1Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
Eur J Hum Genet 11:923-30. 2003Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin-related protein gene (FKRP) gene...
- EMG and nerve conduction studies in children with congenital muscular dystrophySusana Quijano-Roy
Unité de Neurophysiologie, Hopital d Enfants Armand Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
Muscle Nerve 29:292-9. 2004..In conclusion, myopathic EMG changes were typical and early findings in all types of CMD. An associated neuropathy was detected in most patients with merosin-deficient CMD, and also in a child with normal merosin expression...
- [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...
- Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IMaja Poppe
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
Ann Neurol 56:738-41. 2004..These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management...
- [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...
- 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...
- 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.
- 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%...
- 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...
- 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)...
- 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...
- Episodes of exercise-induced dark urine and myalgia in LGMD 2IC Lindberg
Department of Clinical Neuroscience and Physiology, Section of Clinical Neuroscience and Rehabilitation, Sahlgrenska University Hospital, Gothenburg, Sweden
Acta Neurol Scand 125:285-7. 2012..606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I)...
- Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycanAtsushi Kuga
Division of Neurology Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan
J Biol Chem 287:9560-7. 2012....
- Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetesChris Wallace
Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Hum Mol Genet 21:2815-24. 2012....
- Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseS Saredi
Division of Neuromuscular Diseases and Neuroimmunology, Foundation Neurological Institute C Besta, Milano, Italy
J Neurol Sci 318:45-50. 2012..Cerebral MRI is important for identifying MEB and α-dystroglycanopathy phenotypes in children and foetuses, and hence for directing the genetic analysis...
- Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technologyByung Chan Lim
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children s Hospital, Seoul, Republic of Korea
Neuromuscul Disord 23:337-44. 2013..As suboptimal coverage in a small subset of coding regions may affect the sensitivity of the method, complementary Sanger sequencing may be required...
- Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patientsHui Jiao
Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China
Mol Genet Genomics 288:297-308. 2013....
- Limb-girdle muscular dystrophy type 2I is not rare in TaiwanWen Chen Liang
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
Neuromuscul Disord 23:675-81. 2013..Among them, five LGMD patients harbored FKRP mutations leading to the diagnosis of LGMD2I. One common mutation, c.948delC, was identified and cardiomyopathy was found to be very common in our cohort...
- Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2ISimon Hauerslev
Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
PLoS ONE 8:e66929. 2013Patients with Limb girdle muscular dystrophy type 2I (LGMD2I) are characterized by progressive muscle weakness and wasting primarily in the proximal muscles, while distal muscles often are spared...
- 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....
- 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...
- 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 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
- 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...
- 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...
- 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)...
- 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...
- 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...
- 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...
- 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.
- 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...
- Xiao Xiao; Fiscal Year: 2016..The most common form is limb girdle muscular dystrophy 2I (LGMD2I) that manifests cardiomyopathy at later stage...
- 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. ..