fukutin related protein


Gene Symbol: fukutin related protein
Description: fukutin related protein
Alias: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, fukutin-related protein
Species: human
Products:     fukutin related protein

Top Publications

  1. Louhichi N, Triki C, Quijano Roy S, Richard P, Makri S, Méziou M, et al. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics. 2004;5:27-34 pubmed
    ..severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I)...
  2. Lu P, Zillmer A, Wu X, Lochmuller H, Vachris J, Blake D, et al. Mutations alter secretion of fukutin-related protein. Biochim Biophys Acta. 2010;1802:253-8 pubmed publisher
    Mutations 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 ..
  3. Brockington M, Blake D, Prandini P, Brown S, Torelli S, Benson M, et al. 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-dystroglycan. Am J Hum Genet. 2001;69:1198-209 pubmed
    ..Here we identify the gene for a new member of the fukutin protein family (fukutin related protein [FKRP]), mapping to human chromosome 19q13.3...
  4. Mercuri E, Brockington M, Straub V, Quijano Roy S, Yuva Y, Herrmann R, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol. 2003;53:537-42 pubmed
    ..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...
  5. Muller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord. 2005;15:372-6 pubmed
    Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene...
  6. Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi Y, et al. Subcellular localization of fukutin and fukutin-related protein in muscle cells. J Biochem. 2004;135:709-12 pubmed
    ..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. ..
  7. Esapa C, McIlhinney R, Blake D. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. 2005;14:295-305 pubmed
    ..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...
  8. Brockington M, Yuva Y, Prandini P, Brown S, Torelli S, Benson M, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10:2851-9 pubmed
    ..Both MDC1C and LGMD2I map to an identical region on chromosome 19q13.3...
  9. Dolatshad N, Brockington M, Torelli S, Skordis L, Wever U, Wells D, et al. Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. Exp Cell Res. 2005;309:370-8 pubmed
    ..Immunolabelling of FKRP in the muscle of MDC1C and LGMD2I patients was found to be indistinguishable from normal controls...

More Information


  1. Petri H, Sveen M, Thune J, Vissing C, Dahlqvist J, Witting N, et al. Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. Int J Cardiol. 2015;182:403-11 pubmed publisher
    ..LVEF decreased significantly in patients with BMD and LGMD2I, and the majority of patients with LGMD2E had left ventricular systolic dysfunction...
  2. Tucker J, Lu P, Xiao X, Lu Q. Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. Mol Ther Nucleic Acids. 2018;11:216-227 pubmed publisher
    ..type A,5 (MDDGA5), muscle-eye-brain (MDDGB5) with or without cognitive deficit, to limb-girdle type 2I (MDDGC5)...
  3. Schottlaender L, Petzold A, Wood N, Houlden H. Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. J Neurol Sci. 2015;348:266-8 pubmed publisher
    ..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. ..
  4. Cabrera Serrano M, Ghaoui R, Ravenscroft G, Johnsen R, Davis M, Corbett A, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138:836-44 pubmed publisher
    ..This report expands the phenotypic spectrum of GMPPB mutations to include limb-girdle muscular dystrophies with adult onset with or without intellectual disability, or isolated rhabdomyolysis. ..
  5. Cataldi M, Lu P, Blaeser A, Lu Q. Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice. Nat Commun. 2018;9:3448 pubmed publisher
    ..Ribitol treatment presents a new class, low risk, and easy to administer experimental therapy to restore F-α-DG in FKRP-related muscular dystrophy. ..
  6. Awano H, Blaeser A, Wu B, Lu P, Keramaris Vrantsis E, Lu Q. Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity. Neuromuscul Disord. 2015;25:474-84 pubmed publisher
    ..We therefore conclude that muscle regeneration is not impaired in the early stage of the dystroglycanopathies, and F-α-DG does not play a significant role in myogenic cell proliferation and fiber formation and maturation. ..
  7. Carlson C, McGaughey S, Eskuri J, Stephan C, Zimmerman M, Mathews K. Illness-associated muscle weakness in dystroglycanopathies. Neurology. 2017;89:2374-2380 pubmed publisher
    ..People with DG, across genotypes, can experience acute, transient weakness associated with a febrile illness, a phenomenon that rarely occurs in DBMD. The physiologic basis of this phenomenon is unknown. NCT00313677. ..
  8. Imae R, Manya H, Tsumoto H, Osumi K, Tanaka T, Mizuno M, et al. CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan. J Biol Chem. 2018;293:12186-12198 pubmed publisher
    ..These results suggest that CDP-Gro inhibits the synthesis of the functional O-mannosyl glycan of α-DG by preventing further elongation of the glycan chain. This is the first report of GroP transferases in mammals. ..
  9. Johnson K, Bertoli M, Phillips L, Topf A, Van den Bergh P, Vissing J, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8:23 pubmed publisher
    ..We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. ..
  10. Svahn J, Streichenberger N, Benveniste O, Menassa R, Michel L, Fayolle H, et al. Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations. Neuromuscul Disord. 2015;25:865-8 pubmed publisher
    ..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.
  11. Johar A, Mastronardi C, Rojas Villarraga A, Patel H, Chuah A, Peng K, et al. Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome. J Transl Med. 2015;13:173 pubmed publisher
    ..Among those, the LRP1/STAT6 novel mutation has the strongest case for being categorised as potentially causative of MAS given the presence of intriguing patterns of functional interaction with other major genes shaping autoimmunity. ..
  12. Vannoy C, Zhou H, Qiao C, Xiao X, Bang A, Lu Q. Adeno-Associated Virus-Mediated Mini-Agrin Delivery Is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I. Am J Pathol. 2017;187:431-440 pubmed publisher
    ..Further exploration of mAgrin modification is necessary to strengthen its binding to other membrane components, including hypoglycosylated ?-DG, for potential therapeutic applications. ..
  13. Wallace C, Rotival M, Cooper J, Rice C, Yang J, McNeill M, et al. Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes. Hum Mol Genet. 2012;21:2815-24 pubmed publisher
  14. Hong X, Chen Y. [Clinical features and FKRP mutations of congenital muscular dystrophy 1C]. Zhongguo Dang Dai Er Ke Za Zhi. 2018;20:765-768 pubmed
    Congenital muscular dystrophy type 1C (MDC1C) is caused by the homozygous or compound heterozygous mutations of the FKRP gene. This article reported the clinical and mutation features of a child with MDC1C...
  15. Løkken N, Hedermann G, Thomsen C, Vissing J. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. Ann Neurol. 2016;80:466-71 pubmed publisher
    ..calf muscles of patients with Becker muscular dystrophy (BMD, n?=?14) and limb-girdle type 2I muscular dystrophy (LGMD2I, n?=?11), before and after correcting for muscle fat infiltration...
  16. Jaeken J, Peanne R. What is new in CDG?. J Inherit Metab Dis. 2017;40:569-586 pubmed publisher
  17. Whitmore C, Fernandez Fuente M, Booler H, Parr C, Kavishwar M, Ashraf A, et al. The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Hum Mol Genet. 2014;23:1842-55 pubmed publisher
  18. El Battrawy I, Zhao Z, Lan H, Li X, Yücel G, Lang S, et al. Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy. Circ Genom Precis Med. 2018;11:e001893 pubmed publisher
    ..We report here that human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes from a patient with LGMD2I and DCM associated with recurrent ventricular tachycardia displayed ion channel dysfunction and abnormality of ..
  19. Wu B, Shah S, Lu P, Richardson S, Bollinger L, Blaeser A, et al. Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of ?-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation. Am J Pathol. 2016;186:1635-48 pubmed publisher
    ..These results, for the first time, demonstrate the efficacy and feasibility of this alliance treatment of the two drugs for fukutin-related protein-muscular dystrophy. ..
  20. Gerin I, Ury B, Breloy I, Bouchet Seraphin C, Bolsée J, Halbout M, et al. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. Nat Commun. 2016;7:11534 pubmed publisher
    ..We observe that in some cases glycosylation can be partially restored by addition of ribitol to the culture medium, suggesting that dietary supplementation with ribitol should be evaluated as a therapy for patients with ISPD mutations. ..
  21. Yu Q, Morales M, Li N, Fritz A, Ruobing R, Blaeser A, et al. Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy. Skelet Muscle. 2018;8:13 pubmed publisher
    ..This study provides new functional outcome measures for preclinical trials of FKRP-related muscular dystrophies. ..
  22. Taniguchi Ikeda M, Morioka I, Iijima K, Toda T. Mechanistic aspects of the formation of ?-dystroglycan and therapeutic research for the treatment of ?-dystroglycanopathy: A review. Mol Aspects Med. 2016;51:115-24 pubmed publisher
    ..eye brain disease (MEB), and the Walker Warburg syndrome (WWS), and types of limb girdle muscular dystrophy 2I (LGMD2I)...
  23. Wu B, Shah S, Lu P, Bollinger L, Blaeser A, Sparks S, et al. Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy. Am J Pathol. 2018;188:1069-1080 pubmed publisher
    ..Sex-related differential effects of the drugs call for a careful consideration for the drug and dosage selection in male and female patient populations. ..
  24. Blaeser A, Awano H, Lu P, Lu Q. Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice. PLoS ONE. 2018;13:e0191016 pubmed publisher
    ..Interestingly the same glands in the P448Lneo-and to a lesser degree in P448Lneo+ also maintain considerable amount of F-α-DG, indicating the non-proliferating epithelial cells have a molecular setting permitting glycosylation. ..
  25. Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, et al. ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC Neurol. 2015;15:172 pubmed publisher
    ..These data suggest that the genetic heterogeneity of LGMD with and without α-DG defects is greater than previously realized. ..
  26. Maricelli J, Lu Q, Lin D, Rodgers B. Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i. PLoS ONE. 2016;11:e0161984 pubmed publisher
    Limb-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...
  27. Maricelli J, Kagel D, Bishaw Y, Nelson O, Lin D, Rodgers B. Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of limb girdle muscular dystrophy 2i. J Appl Physiol (1985). 2017;123:1126-1138 pubmed publisher
    ..protein P448L mutant mouse replicates many pathologies common to limb girdle muscular dystrophy 2i (LGMD2i) and is a potentially strong candidate for relevant drug screening studies...
  28. Monies D, Alhindi H, Almuhaizea M, Abouelhoda M, Alazami A, Goljan E, et al. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Hum Genomics. 2016;10:32 pubmed
  29. Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, et al. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. BMC Musculoskelet Disord. 2016;17:200 pubmed publisher
    ..Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Analysis revealed a homozygous CAPN3 c...
  30. Frattini P, Villa C, De Santis F, Meregalli M, Belicchi M, Erratico S, et al. Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I. Hum Mol Genet. 2017;26:3682-3698 pubmed publisher
    ..Among other genes involved in the α-DG glycosylation process, fukutin related protein (FKRP) gene mutations generate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (..
  31. Thomas P, Xu R, Martin P. B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. Am J Pathol. 2016;186:2429-48 pubmed publisher
    ..These data demonstrate that GALGT2 overexpression can reduce the extent of muscle pathology in FKRP mutant muscles, but that it may do so via a mechanism that differs from its ability to induce surrogate gene expression. ..
  32. Alonso Rangel L, Benítez Guerrero T, Martínez Vieyra I, Cisneros B, Martínez Tovar A, Winder S, et al. A role for dystroglycan in the pathophysiology of acute leukemic cells. Life Sci. 2017;182:1-9 pubmed publisher
    ..Dg complex integrity and balance are required for a proper hematopoietic cell function, in that its disruption might contribute to leukemia pathophysiology. ..
  33. Kuhn M, Gläser D, Joshi P, Zierz S, Wenninger S, Schoser B, et al. Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. J Neurol. 2016;263:743-50 pubmed publisher
    ..LGMD2A was the most common form, followed by LGMD2L and LGMD2I. In two patients, pathogenic mutations were identified in genes that are not classified as LGMD genes (glycogen ..
  34. Kim J, Hopkinson M, Kavishwar M, Fernandez Fuente M, Brown S. Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. Skelet Muscle. 2016;6:3 pubmed publisher
    ..These findings are of significance to the development of future therapies in this group of devastating conditions. ..
  35. Hildyard J, Lacey E, Booler H, Hopkinson M, Wells D, Brown S. Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?. PLoS ONE. 2016;11:e0159853 pubmed publisher
    ..Moreover, correction of LARGEmyd brain pathology with only moderate, near-physiological LARGE expression suggests a generous therapeutic window. ..
  36. Yoshioka M, Kobayashi K, Toda T. Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. Brain Dev. 2017;39:869-872 pubmed publisher
    ..We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries...
  37. Awano H, Blaeser A, Keramaris E, Xu L, Tucker J, Wu B, et al. Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration. Am J Pathol. 2015;185:2025-37 pubmed publisher
    ..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. ..
  38. Mudau M, Essop F, Krause A. A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. S Afr Med J. 2016;107:80-82 pubmed publisher
    ..As FKRP muscular dystrophy is autosomal recessive in inheritance, the implications of a positive diagnosis in a family differ significantly from those of an X-linked dystrophinopathy. ..
  39. Vicente Crespo M, Pascual M, Fernandez Costa J, Garcia Lopez A, Monferrer L, Miranda M, et al. Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis. PLoS ONE. 2008;3:e1613 pubmed publisher
  40. Yagi H, Kuo C, Obayashi T, Ninagawa S, Khoo K, Kato K. 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 Dystroglycanopathy. Mol Cell Proteomics. 2016;15:3424-3434 pubmed
    ..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. ..
  41. Keramaris E, Lu P, Tucker J, Lu Q. Expression of glycosylated ?-dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice. Muscle Nerve. 2017;55:582-590 pubmed publisher
    Mutations in the Fukutin related protein (FKRP) gene are characterized by a lack of functionally glycosylated ?-dystroglycan (F-?-DG) in muscles...
  42. Kefi M, Amouri R, Chabrak S, Mechmeche R, Hentati F. Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Neuropediatrics. 2008;39:113-5 pubmed publisher
    Mutations in the gene encoding fukutin-related protein (FKRP) cause limb-girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophy (MDC1C)...
  43. Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. elife. 2014;3: pubmed publisher
    ..Our findings greatly broaden the understanding of α-DG glycosylation and provide mechanistic insight into why mutations in B4GAT1 disrupt dystroglycan function and cause disease. ..
  44. Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, et al. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Rep. 2016;14:2209-2223 pubmed publisher
    ..These findings establish the molecular basis of mammalian Rbo5P glycosylation and provide insight into pathogenesis and therapeutic strategies in α-DG-associated diseases. ..
  45. Schwartz M, Hertz J, Sveen M, Vissing J. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology. 2005;64:1635-7 pubmed
    ..A point mutation, L276I has been found in all patients with LGMD2I studied so far...
  46. Rehwaldt J, Rodgers B, Lin D. Skeletal Muscle Contractile Properties in a Novel Murine Model for Limb Girdle Muscular Dystrophy 2i. J Appl Physiol (1985). 2017;:jap.00744.2016 pubmed publisher
    ..properties of the medial gastrocnemius in young adult P448L mice, an affected muscle and novel model of LGMD2i, respectively...
  47. Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, et al. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology. 2003;60:1341-4 pubmed
    The authors mapped an autosomal recessive form of limb-girdle MD on chromosome 19q13.3 (LGMD2I), further narrowed down the candidate region to 1...
  48. Frosk P, Greenberg C, Tennese A, Lamont R, Nylen E, Hirst C, et al. 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 populations. Hum Mutat. 2005;25:38-44 pubmed
    ..A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c...
  49. Gicquel E, Maizonnier N, Foltz S, Martin W, Bourg N, Svinartchouk F, et al. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. Hum Mol Genet. 2017;26:1952-1965 pubmed publisher
    ..Dystrophies type 2I (LGMD2I), a recessive autosomal muscular dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene...
  50. Yilmaz A, Gdynia H, Ponfick M, Ludolph A, Rösch S, Sechtem U. The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I). Clin Res Cardiol. 2011;100:611-5 pubmed publisher
  51. Talim B, Ferreiro A, Cormand B, Vignier N, Oto A, Göğüş S, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscul Disord. 2000;10:548-52 pubmed
    ..We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy. ..
  52. Yamamoto L, Velloso F, Lima B, Fogaça L, de Paula F, Vieira N, et al. Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. J Histochem Cytochem. 2008;56:995-1001 pubmed publisher
    ..gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I)...
  53. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi G, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009;72:1802-9 pubmed publisher
    ..Our data broaden the clinical spectrum associated with mutations in glycosyltransferases and provide data on their prevalence in the Italian population. ..
  54. Harel T, Goldberg Y, Shalev S, Chervinski I, Ofir R, Birk O. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Eur J Hum Genet. 2004;12:38-43 pubmed
    ..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...
  55. Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, et al. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology. 2003;60:988-92 pubmed
    ..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...
  56. Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, et al. Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. Biochem Biophys Res Commun. 2018;497:1025-1030 pubmed publisher
  57. Lazar V, Garcia J. A single human myosin light chain kinase gene (MLCK; MYLK). Genomics. 1999;57:256-67 pubmed
  58. Izquierdo Lahuerta A, de Luis O, Gómez Esquer F, Cruces J, Coloma A. Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis. Biochem Biophys Res Commun. 2016;478:1043-8 pubmed publisher
  59. Brockington M, Blake D, Brown S, Muntoni F. The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. Neuromuscul Disord. 2002;12:233-4 pubmed
  60. Reilich P, Petersen J, Vielhaber S, Mawrin C, Schneider Gold C, Sommer C, et al. LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. Acta Myol. 2006;25:73-6 pubmed
    ..Mutations of FKRP have been reported in congenital muscular dystrophies, LGMD2I, cardiomyopathy and hyperCKemia, but not in myopathies with vacuoles and paired-helical filaments...
  61. Hanisch F, Grimm D, Zierz S, Deschauer M. Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. J Neurol. 2010;257:300-1 pubmed publisher
  62. Papić L, Fischer D, Trajanoski S, Hoftberger R, Fischer C, Strobel T, et al. SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. Eur J Med Genet. 2011;54:214-9 pubmed publisher
    ..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...
  63. Hong D, Zhang W, Wang W, Wang Z, Yuan Y. Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). J Clin Neurosci. 2011;18:494-9 pubmed publisher
    Limb girdle muscular dystrophy type 2I (LGMD2I) is caused by defects in the fukutin-related protein (FKRP) gene. In most Caucasian patients with LGMD2I, the condition is associated with a missense mutation - c.826C>A (p.Leu276Ile)...
  64. Lin Y, Murakami T, Hayashi Y, Nishino I, Nonaka I, Yuo C, et al. A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I. Brain Dev. 2007;29:234-8 pubmed
    ..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.
  65. Vieira N, Schlesinger D, de Paula F, Vainzof M, Zatz M. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. Neuromuscul Disord. 2006;16:870-3 pubmed
    ..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. ..
  66. Beltran Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004;41:e61 pubmed
  67. Bourteel H, Stojkovic T, Cuisset J, Maurage C, Laforet P, Richard P, et al. [Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients]. Rev Neurol (Paris). 2007;163:189-96 pubmed
    Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the fukutin related protein gene (FKRP gene). This study tries to evaluate clinical, biological and mutational characteristics of LGMD2I...
  68. van Reeuwijk J, Olderode Berends M, van den Elzen C, Brouwer O, Roscioli T, van Pampus M, et al. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Clin Genet. 2010;78:275-81 pubmed publisher
    ..The clinical phenotype of the patients was consistent with Walker-Warburg syndrome, the most severe disorder in the disease spectrum of dystroglycanopathies. ..
  69. Liang W, Hayashi Y, Ogawa M, Wang C, Huang W, Nishino I, et al. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord. 2013;23:675-81 pubmed publisher
    ..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...
  70. D Amico A, Petrini S, Parisi F, Tessa A, Francalanci P, Grutter G, et al. Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. Neuromuscul Disord. 2008;18:153-5 pubmed
    ..Our findings add to the array of clinical presentations of FKRP mutations. ..
  71. Boito C, Melacini P, Vianello A, Prandini P, Gavassini B, Bagattin A, et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol. 2005;62:1894-9 pubmed
    ..The finding of 2 asymptomatic patients with FKRP mutations suggests that modulating factors may ameliorate the clinical phenotype. ..
  72. Blaeser A, Awano H, Wu B, Lu Q. Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice. PLoS ONE. 2016;11:e0164187 pubmed publisher
    ..the P448L mutation in the fukutin-related protein gene demonstrate the dystrophic phenotype similar to that of LGMD2I. Here we examined the morphology of the heart and diaphragm, focusing on pathology of diaphragm and cardiac ..
  73. Kanagawa M, Toda T. Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy. J Neuromuscul Dis. 2017;4:259-267 pubmed publisher
    ..Here, we review the history of dystroglycanopathy, the properties of the sugar chain structure of alpha-dystroglycan, dystroglycanopathy gene functions, and therapeutic strategies...
  74. Boito C, Fanin M, Gavassini B, Cenacchi G, Angelini C, Pegoraro E. Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. Virchows Arch. 2007;451:1047-55 pubmed
    Limb 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...
  75. Mercuri E, Sewry C, Brown S, Brockington M, Jungbluth H, DeVile C, et al. Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?. Neuropediatrics. 2000;31:186-9 pubmed
    ..Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD. ..
  76. Kawahara G, Guyon J, Nakamura Y, Kunkel L. Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010;19:623-33 pubmed publisher
    ..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...
  77. Alhamidi M, Kjeldsen Buvang E, Fagerheim T, Brox V, Lindal S, Van Ghelue M, et al. Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction. PLoS ONE. 2011;6:e22968 pubmed publisher
    Limb-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)...
  78. MacLeod H, Pytel P, Wollmann R, Chelmicka Schorr E, Silver K, Anderson R, et al. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007;17:285-9 pubmed
    Mutations in the gene encoding fukutin related protein (FKRP) produce a spectrum of disease including congenital muscular dystrophy and limb girdle muscular dystrophy...
  79. Darin N, Kroksmark A, Ahlander A, Moslemi A, Oldfors A, Tulinius M. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol. 2007;11:353-7 pubmed
    ..We describe two patients with LGMD2I and a Duchenne-like phenotype...
  80. Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff L, Rasmussen M, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscul Disord. 2011;21:41-6 pubmed publisher
    Mutations in the FKRP (Fukutin Related Protein) gene produce a range of phenotypes including Limb Girdle Muscular Dystrophy Type 2I (LGMD2I)...
  81. Fu X, Yang H, Wei C, Jiao H, Wang S, Yang Y, et al. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies. J Hum Genet. 2016;61:1013-1020 pubmed publisher
    ..muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I)...
  82. Lahoria R, Milone M. Rhabdomyolysis featuring muscular dystrophies. J Neurol Sci. 2016;361:29-33 pubmed publisher
    ..A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. ..
  83. Alhamidi M, Brox V, Stensland E, Liset M, Lindal S, Nilssen Ã. Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation. Neuromuscul Disord. 2017;27:619-626 pubmed publisher
    Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP)...
  84. Bourteel H, Vermersch P, Cuisset J, Maurage C, Laforet P, Richard P, et al. Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. J Neurol Neurosurg Psychiatry. 2009;80:1405-8 pubmed publisher
    Limb-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)...
  85. Krag T, Vissing J. A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. J Neuropathol Exp Neurol. 2015;74:1137-46 pubmed publisher
    Limb-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 ..