The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies

Journal of Neuromuscular Diseases

Volumn 2, Issue , 2015, Pages S7-S19

  Murphy, Alexander Peter ^a   Straub, Volker ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Limb girdle muscular dystrophy; natural history; pathogenesis

Indexed keywords

ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; CALPAIN 3; CAVEOLIN 3; DESMIN; DYSFERLIN; GAMMA SARCOGLYCAN; HEAT SHOCK PROTEIN 40; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; LAMININ; MEMBRANE PROTEIN; MYOTILIN; TRANSPORTIN; UNCLASSIFIED DRUG;

CALPAINOPATHY; CARDIOMYOPATHY; CAVEOLINOPATHY; DESMINOPATHY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DYSFERLINOPATHY; DYSTROGLYCANOPATHY; HEART ARRHYTHMIA; HISTORY; HUMAN; LAMINOPATHY; LIMB GIRDLE MUSCULAR DYSTROPHY; MYOTILINOPATHY; ONSET AGE; OUTCOME ASSESSMENT; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SARCOGLYCANOPATHY; TELETHONINOPATHY; THERAPEUTIC RESEARCH; TITINOPATHY; TREATMENT INDICATION;

EID: 84962639586     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-150105     Document Type: Review

References (131)

1. Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies, by Brain. 1954;77: 169-231.
2. Bushby KM. Diagnostic criteria of the limb-girdle muscular dystrophies: Report of theENMCconsortium on limb-girdle dystrophies. Neuromuscul Disord. 1995;5:71-4.
3. Pegoraro E, Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle WA: University of Washington, Seattle; 1993.
4. van derKooi AJ, Barth PG, Busch HFM, de Haan R, Ginjaar HB, van Essen AJ, et al. The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands. Brain. 1996;119(5):1471-80.
5. Bushby K. Report on the 12th ENMC Sponsored International Workshop - The "Limb-Girdle" Muscular Dystrophies. Neuromuscular Disorders. 1992;2(1):3-5.
6. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population. Brain. 2009;132(Pt 11):3175-86.
7. Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain. 2011;134(Pt 1):171-82.
8. Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Molecular Genetics and Metabolism. 2013;110(3):287-9.
9. Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clinical Genetics. 2015. [Epub ahead of print] DOI: 10.1111/cge.12561
10. Magri F, Bo RD, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscular Disorders. 2012;22(11):934-43.
11. Willis TA, Hollingsworth KG, Coombs A, Sveen M-L, Andersen S, Stojkovic T, et al. Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study. PLoS ONE. 2014;9(2):e90377.
12. Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, et al. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13- p12. Brain. 2007;130(Pt 2):368-80.
13. Hauser MA, Conde CB, KowaljowV, Zeppa G, Taratuto AL, Torian UM, et al. myotilin Mutation Found in Second Pedigree with LGMD1A. American Journal of Human Genetics. 2002;71(6):1428-32.
14. Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, et al. Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromuscul Disord. 1994;4(5-6):471-5.
15. Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology. 1988;38(1): 5-9.
16. Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet. 1992;50(6):1211-7.
17. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Human Molecular Genetics. 2000;9(9):1453-9.
18. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genetics. 1999;21(3):285-8.
19. Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: Translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handbook of Cinical Neurology. 2011;101:135-42.
20. Stoppani E, Rossi S, Meacci E, Penna F, Costelli P, Bellucci A, et al. Point mutated caveolin-3 form (P104L) impairs myoblast differentiation via Akt and p38 signalling reduction, leading to an immature cell signature. Biochimica et Biophysica Acta. 2011;1812(4):468-79.
21. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genetics. 2012;44(4):450-5, S1-2.
22. Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, et al. Exome sequencing identifies a DNAJB6 mutation in a family with dominantlyinherited limb-girdle muscular dystrophy. Neuromuscul Disord. 2014;24(5):431-5.
23. Greenberg SA, Salajegheh M, Judge DP, Feldman MW, Kuncl RW, Waldon Z, et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Annals of Neurology. 2012;71(1): 141-5.
24. Goldfarb LG, Olive M, Vicart P, Goebel HH. Intermediate filament diseases: Desminopathy. Advances in Experimental Medicine and Biology. 2008;642:131-64.
25. Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, et al. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013;8(5):e63536.
26. Gamez J, Navarro C, Andreu AL, Fernandez JM, Palenzuela L, Tejeira S, et al. Autosomal dominant limbgirdle muscular dystrophy: A large kindred with evidence for anticipation. Neurology. 2001;56(4):450-4.
27. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. European Journal of Human Genetics: EJHG. 2004;12(12):1033-40.
28. Vieira NM, NaslavskyMS, Licinio L, Kok F, Schlesinger D, Vainzof M, et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Human Molecular Genetics. 2014;23(15): 4103-10.
29. Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS. A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. Human Molecular Genetics. 1995;4(4):717-25.
30. Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JEMA, Anderson LVB, et al. Calpainopathy-A Survey of Mutations and Polymorphisms. The American Journal of Human Genetics. 1999;64(6):1524-40.
31. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, LakoM, et al.Agene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics. 1998;20(1):37-42.
32. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genetics. 1998;20(1):31-6.
33. Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microscopy Research and Technique. 2000;48(3-4):167-80.
34. Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, MokiniV. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. Genetic counseling (Geneva, Switzerland). 2011;22(4):377-83.
35. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994;78(4):625-33.
36. Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology. 2015;84(17): 1772-81.
37. Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the deltasarcoglycan gene. Nature Genetics. 1996;14(2):195-8.
38. Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS letters. 1997;415(2):163-8.
39. Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, et al. Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. Neuromuscular Disorders. 2015;25(4):349-52.
40. Frosk P, Greenberg CR, Tennese AA, 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. Human Mutation. 2005;25(1):38-44.
41. Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ. Trim32 is a Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy Type 2H that Binds to Skeletal Muscle Myosin and Ubiquitinates Actin. Journal of Molecular Biology. 2005;354(2):413-24.
42. Bushby K, Anderson LV, Pollitt C, Naom I, Muntoni F, Bindoff L. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 1998;121 (Pt 4):581-8.
43. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, 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(6):1198-209.
44. Udd B, Kaarianen H, Somer H. Muscular dystrophy with separate clinical phenotypes in a large family. Muscle & Nerve. 1991;14(11):1050-8.
45. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71(3):492-500.
46. Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscular Disorders. 2005;15(4):271-5.
47. Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, et al. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. Neuromuscul Disord. 2003;13(10):771-8.
48. Murakami T, Hayashi YK, Noguchi S, OgawaM, Nonaka I, Tanabe Y, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Annals of Neurology. 2006;60(5):597-602.
49. van Reeuwijk J, Janssen M, van den Elzen C, Beltran- Valero de Bernabe D, Sabatelli P, Merlini L, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. Journal of Medical Genetics. 2005;42(12):907-12.
50. Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Archives of Neurology. 2008;65(1):137-41.
51. Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T. Structure-function analysis of human protein O-linked mannose beta1, 2-N-acetylglucosaminyltransferase 1, POMGnT1. Biochemical and Biophysical Research Communications. 2004;320(1):39-44.
52. HaraY, Balci-Hayta B, Yoshida-Moriguchi T, KanagawaM, Beltran-Valero de Bernabe D, Gundesli H, et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. The New England Journal of Medicine. 2011;364(10):939-46.
53. Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomalrecessive limb-girdle muscular dystrophy.AmJHumGenet. 2010;87(6):834-41.
54. Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: Distinct histopathological outcomes compared with desminopathies. Journal of Medical Genetics. 2013;50(7):437-43.
55. Bogershausen N, Shahrzad N, Chong JX, von Kleist- Retzow JC, Stanga D, Li Y, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.AmJHumGenet. 2013;93(1):181-90.
56. Ning B, Elbein AD. Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins. European Journal of Biochemistry / FEBS. 2000;267(23):6866-74.
57. Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alphadystroglycan. Am J Hum Genet. 2013;93(1):29-41.
58. Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker- Warburg syndrome. Nature Genetics. 2012;44(5):575-80.
59. Legate KR, Montanez E, Kudlacek O, Fussler R. ILK, PINCH and parvin: The tIPP of integrin signalling. Nat Rev Mol Cell Biol. 2006;7(1):20-31.
60. Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Human Molecular Genetics. 2000;9(15):2335-40.
61. Defour A, Van der Meulen JH, Bhat R, Bigot A, Bashir R, Nagaraju K, et al. Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion. Cell Death & Disease. 2014;5:e1306.
62. Goonasekera SA, Davis J, Kwong JQ, Accornero F, Wei-LaPierre L, Sargent MA, et al. Enhanced Ca(2)(+) influx from STIM1-Orai1 induces muscle pathology in mouse models of muscular dystrophy. Human Molecular Genetics. 2014;23(14):3706-15.
63. Alderton JM, Steinhardt RA. How calcium influx through calcium leak channels is responsible for the elevated levels of calcium-dependent proteolysis in dystrophic myotubes. Trends in Cardiovascular Medicine. 2000;10(6): 268-72.
64. Tidball JG. Inflammatory processes in muscle injury and repair. American Journal of Physiology Regulatory, Integrative and Comparative Physiology. 2005;288(2):R345-53.
65. Meng J, Bencze M, Asfahani R, Muntoni F, Morgan JE. The effect of the muscle environment on the regenerative capacity of human skeletal muscle stem cells. Skeletal Muscle. 2015;5:11.
66. Wallace GQ, McNally EM.Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. Annual Review of Physiology. 2009;71:37-57.
67. Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A multicentre longitudinal study. PLoS One. 2013;8(8):e70993.
68. Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, et al. Caveolinopathy-new mutations and additional symptoms. Neuromuscul Disord. 2008;18(7):572-8.
69. Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Human Molecular Genetics. 2000;9(14):2141-7.
70. Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). Journal of Neurology. 2011;258(8):1437-44.
71. Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, et al. LMNA-associated myopathies: The Italian experience in a large cohort of patients. Neurology. 2014;83(18): 1634-44.
72. Carboni N, Mura M, Marrosu G, Cocco E, Marini S, Solla E, et al. Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. Muscle & Nerve. 2010;41(4):458-63.
73. Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, et al. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology. 2009;72(16):1432-5.
74. Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Human Mutation. 2008;29(2):258-66.
75. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genetics. 1998;18(4):365-8.
76. Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochemical and Biophysical Research Communications. 2004;313(1):178-84.
77. Sandell S, Huovinen S, Sarparanta J, Luque H, Raheem O, Haapasalo H, et al. The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. Journal of Neurology, Neurosurgery, and Psychiatry. 2010;81(8): 834-9.
78. Speer MC, Vance JM, Grubber JM, Lennon Graham F, Stajich JM, Viles KD, et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet. 1999;64(2): 556-62.
79. Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF. Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. European Radiology. 2008;18(12):2922-36.
80. Vajsar J, Becker LE, Freedom RM, Murphy EG. Familial desminopathy: Myopathy with accumulation of desmin-type intermediate filaments. Journal of Neurology, Neurosurgery, and Psychiatry. 1993;56(6):644-8.
81. Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord. 2005;15(2): 164-71.
82. Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G. American Journal of Medical Genetics. 1999;82(5): 392-8.
83. Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, et al. MRI in the assessment of muscular pathology: A comparison between limbgirdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. La Radiologia Medica. 2010;115(4): 585-99.
84. Fanin M, Duggan DJ, Mostacciuolo ML, Martinello F, Freda MP, Soraru G, et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. Journal of Medical Genetics. 1997;34(12):973-7.
85. Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. The New England Journal of Medicine. 1997;336(9):618-24.
86. Lodi R, Muntoni F, Taylor J, Kumar S, Sewry CA, Blamire A, et al. CorrelativeMRimaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. Neuromuscul Disord. 1997;7(8):505-11.
87. Moreira ES, Vainzof M, Marie SK, Sertie AL, Zatz M, Passos-Bueno MR. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet. 1997;61(1):151-9.
88. Olive M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, et al. Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord. 2008;18(12):929-33.
89. Michele DE, Campbell KP. Dystrophin-glycoprotein complex: Post-translational processing and dystroglycan function. The Journal of Biological Chemistry. 2003;278(18):15457-60.
90. Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, et al. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology. 2011;76(2):194-5.
91. Udd B, Rapola J, Nokelainen P, Arikawa E, Somer H. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. Journal of the Neurological Sciences. 1992;113(2):214-21.
92. Pfeffer G, Sambuughin N, Olive M, Tyndel F, Toro C, Goldfarb LG, et al. A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. Neuromuscul Disord. 2014;24(3):241-4.
93. Penttila S, Palmio J, Suominen T, Raheem O, Evila A, Muelas Gomez N, et al. Eight newmutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012;78(12):897-903.
94. Sandell SM, Mahjneh I, Palmio J, Tasca G, Ricci E, Udd BA. 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D. European journal of neurology: The official Journal of the European Federation of Neurological Societies. 2013;20(12):1553-9.
95. Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. Journal of Neurology. 2013;260(8):2033-41.
96. Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, et al. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. European journal of human genetics: EJHG. 2010;18(6):636-41.
97. Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, et al. A gene for autosomal recessive limbgirdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet. 1998;63(1):140-7.
98. Hoffman EP, Pegoraro E, Scacheri P, Burns RG, Taber JW, Weiss L, et al. Genetic counseling of isolated carriers of Duchenne muscular dystrophy. American Journal of Medical Genetics. 1996;63(4):573-80.
99. Sacconi S, Camano P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, et al. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. Journal of Medical Genetics. 2012;49(1):41-6.
100. Koch AJ, Holaska JM. Emerin in health and disease. Seminars in Cell & Developmental Biology. 2014;29:95-106.
101. Kishnani PS, Amartino HM, LindbergC, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Molecular Genetics and Metabolism. 2014;113(1-2):84-91.
102. Deconinck N, Richard P, Allamand V, Behin A, Laforet P, Ferreiro A, et al. Bethlem myopathy: Long-term follow-up identifies COL6 mutations predicting severe clinical evolution. Journal of Neurology, Neurosurgery, and Psychiatry. 2014. [Epub ahead of print] DOI: 10.1136/JNNP-2013- 307245
103. Rowin J, Meriggioli MN, Cochran EJ, Sanders DB. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscul Disord. 1999;9(6- 7):417-20.
104. Schroder T, Fuchss J, Schneider I, Stoltenburg-Didinger G, Hanisch F. Eosinophils in hereditary and inflammatory myopathies. Acta myologica: Myopathies and cardiomyopathies: Official Journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases. 2013;32(3): 148-53.
105. Vinit J, Samson M Jr, Gaultier JB, Laquerriere A, Ollagnon E, Petiot P, et al. Dysferlin deficiency treated like refractory polymyositis. Clinical Rheumatology. 2010;29(1):103-6.
106. Barresi R. From proteins to genes: Immunoanalysis in the diagnosis of muscular dystrophies. Skeletal Muscle. 2011;1(1):24.
107. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: The 2014 update. Acta myologica :Myopathies and cardiomyopathies: Official Journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases. 2014;33(1): 1-12.
108. Darin N, Kroksmark AK, Ahlander AC, Moslemi AR, Oldfors A, Tulinius M. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. European journal of paediatric neurology: EJPN: Official Journal of the European Paediatric Neurology Society. 2007;11(6):353-7.
109. Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Annals of Neurology. 2006;60(5):603-10.
110. Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, et al. Treatment of dysferlinopathy with deflazacort: A double-blind, placebo-controlled clinical trial. Orphanet Journal of Rare Diseases. 2013;8:26.
111. Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Physical medicine and rehabilitation clinics of North America. 2012;23(3):675-87.
112. Simonds AK. Recent advances in respiratory care for neuromuscular disease. Chest. 2006;130(6):1879-86.
113. group T-NE. TREAT-NMD: Advancing diagnosis, care and treatment for people with neuromuscular disease around the world 2015 [cited 2015 15th of May].
114. JAIN. International Clinical Outcome Study for Dysferlinopathy (LGMD 2B/Miyoshi) JAIN foundation 2015 [cited 2015 15th of May]. Available from: http://www.jainfoundation. org/dysferlinoutcomestudy.
115. CtCC. LGMD 2A Registry 2015. Available from: http://www.lgmd2a.org/.
116. The International Dysferlinopathy Registry Hearing before the Jain Foundation(2015).
117. Foundation KP. Kurt & Peter Foundation / Patient Registry 2015 [cited 2015 21st of May 2015]. Available from: www.lgmd2cregistry.org.
118. Foundation LD. Patient Resources / LGMD 2D Foundation 2015 [cited 2015 21st of May 2015]. Available from: www.lgmd2d.org/patient-resources.
119. Registry GF. Home - Global FKRP Registry 2015 [cited 2015 21st of May 2015]. Available from: www.fkrpregistry. org.
120. CMD C. PatientCrossroads CMD 2015 [cited 2015 21st of May 2015]. Available from: www.cmdir.org
121. Sondergaard PC, Griffin DA, Pozsgai ER, Johnson RW, Grose WE, Heller KN, et al. AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. Annals of Clinical and Translational Neurology. 2015;2(3):256-70.
122. Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, et al. Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Annals of Neurology. 2009;66(3): 290-7.
123. Xu L, Lu PJ, Wang CH, Keramaris E, Qiao C, Xiao B, et al. Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of alpha-dystroglycan and improves muscle functions. Molecular therapy: The Journal of the American Society of Gene Therapy. 2013;21(10):1832-40.
124. Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaib A, Miyake K, et al. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Human Molecular Genetics. 2010;19(10):1897-907.
125. Azakir BA, Di Fulvio S, Salomon S, Brockhoff M, Therrien C, Sinnreich M. Modular dispensability of dysferlin C2 domains reveals rational design for minidysferlin molecules. The Journal of Biological Chemistry. 2012;287(33):27629-36.
126. Barthelemy F, Wein N, Krahn M, Levy N, Bartoli M. Translational research and therapeutic perspectives in dysferlinopathies. Molecular Medicine (Cambridge, Mass). 2011;17(9-10):875-82.
127. Murphy KT, Ryall JG, Snell SM, Nair L, Koopman R, Krasney PA, et al. Antibody-directed myostatin inhibition improves diaphragm pathology in young but not adult dystrophic mdx mice. The American Journal of Pathology. 2010;176(5):2425-34.
128. Azakir BA, Di Fulvio S, Kinter J, Sinnreich M. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. The Journal of Biological Chemistry. 2012;287(13):10344-54.
129. Meregalli M, Navarro C, Sitzia C, Farini A, Montani E, Wein N, et al. Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells. The FEBS Journal. 2013;280(23):6045-60.
130. Cotta A, Carvalho E, da-Cunha-Júnior AL, Paim JF, Navarro M, Valicek J, et al. Common recessive limb girdle muscular dystrophies differential diagnosis: Why and how? Arq Neuro-Psiquiatr. 2014;72(9):721-34.
131. Laval SH, Bushby KMD, Limb-girdle muscular dystrophies - from genetics to molecular pathology. Neuropathology and Applied Neurobiology. 2004;30(2): 91-105.