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Muscular Dystrophy pp 37–53Cite as

An Overview of the Other Muscular Dystrophies: Underlying Genetic and Molecular Mechanisms

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Abstract

Muscular dystrophies (MD) refer to a heterogeneous group of disorders associated with ongoing muscle degeneration and regeneration, leading to progressive weakness. The distribution of weakness includes a limb-girdle pattern, with shoulder and hip girdle muscle involvement; a humeroperoneal pattern, with predominantly triceps, biceps, and peroneal muscles weakness; or a distal pattern, with distal weakness in the legs and arms. Traditionally, the classification of MD is based on a combination of clinical and pathological criteria, including age of onset and distribution of muscle weakness, the extent of disease progression, associated symptoms, systemic features, family history, serum creatine kinase, muscle histology, as well as electromyography and nerve conduction studies. Increasingly, the diagnosis of MD requires genetic confirmation, as there can be considerable variations and overlaps in the clinical phenotypes. This chapter aims to provide an overview of the myotonic dystrophies, limb-girdle muscular dystrophies, and congenital muscular dystrophies. Duchenne and Becker muscular dystrophy as well as facioscapulohumeral dystrophy are discussed in other chapters.

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References

  1. Mercuri E, Muntoni F. Muscular dystrophies. Lancet. 2013;381:845–60.

    Article  CAS  PubMed  Google Scholar 

  2. Emery AE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord. 1991;1:19–29.

    Article  CAS  PubMed  Google Scholar 

  3. Arnold WD, Flanigan KM. A practical approach to molecular diagnostic testing in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23:589–608.

    Article  PubMed  Google Scholar 

  4. Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014;83:1453–63.

    Article  PubMed  Google Scholar 

  5. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell. 1992;68:799–808.

    Article  CAS  PubMed  Google Scholar 

  6. Fu YH, Pizzuti A, Fenwick Jr RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255:1256–8.

    Article  CAS  PubMed  Google Scholar 

  7. Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 1998;19:196–8.

    Article  CAS  PubMed  Google Scholar 

  8. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293:864–7.

    Article  CAS  PubMed  Google Scholar 

  9. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology. 1994;44:1448–52.

    Article  CAS  PubMed  Google Scholar 

  10. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H. Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord. 1997;7:217–28.

    Article  CAS  PubMed  Google Scholar 

  11. Lin X, Miller JW, Mankodi A, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet. 2006;15:2087–97.

    Article  CAS  PubMed  Google Scholar 

  12. Wojciechowska M, Krzyzosiak WJ. Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum Mol Genet. 2011;20:3811–21.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Pascual M, Vincente M, Monferrer L, Artero R. The muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing. Differentiation. 2006;74:65–80.

    Article  CAS  PubMed  Google Scholar 

  14. Barreau C, Paillard L, Méreau A, Osborne HB. Mammalian CELF/bruno-like RNA-binding proteins: molecular characteristics and biological functions. Biochimie. 2006;88:515–25.

    Article  CAS  PubMed  Google Scholar 

  15. Amack JD, Mahadevan MS. Myogenic defects in myotonic dystrophy. Dev Biol. 2004;265:294–301.

    Article  CAS  PubMed  Google Scholar 

  16. Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G. Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Eur J Histochem. 2006;50:177–82.

    CAS  PubMed  Google Scholar 

  17. Perbellini R, Greco S, Sarra-Ferraris G, Cardani R, Capogrossi MC, Meola G, Martelli F. Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1. Neuromuscul Disord. 2011;21:81–8.

    Article  PubMed  Google Scholar 

  18. Greco S, Perfetti A, Fasanaro P, Cardani R, Capogrossi MC, Meola G, Martelli F. Deregulated microRNAs in myotonic dystrophy type 2. PLoS One. 2012;7:e39732.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  19. Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 2013;32:154–65.

    CAS  PubMed Central  PubMed  Google Scholar 

  20. Abbruzzese C, Costanzi Porrini S, Mariani B, et al. Instability of a premutation allele in homozygous patients with myotonic dystrophy type I. Ann Neurol. 2002;52:435–41.

    Article  CAS  PubMed  Google Scholar 

  21. Kroksmark AK, Ekstrom AB, Bjorck E, Tulinius M. Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence. Dev Med Child Neurol. 2005;47:478–85.

    Article  PubMed  Google Scholar 

  22. Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet. 1992;1:192–5.

    Article  CAS  PubMed  Google Scholar 

  23. Harley HG, Rundle SA, MacMillan JC, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet. 1993;52:1164–74.

    CAS  PubMed Central  PubMed  Google Scholar 

  24. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, et al. Myotonic dystrophy: size and sex-dependent dynamics of CTG meiotic instability and somatic mosaicism. Am J Hum Genet. 1993;52:873–83.

    Google Scholar 

  25. Redman JB, Fenwick Jr RG, Fu YH, Pizzuti A, Caskey CT. Relationship between parental trinucleotide CTG repeat length and severity of myotonic dystrophy in the offspring. JAMA. 1993;269:1960–5.

    Article  CAS  PubMed  Google Scholar 

  26. Hageman AT, Gabreels FJ, Liem KD, Renkawek K, Boon JM. Congenital myotonic dystrophy: a report on thirteen cases and a review of the literature. J Neurol Sci. 1993;115:95–101.

    Article  CAS  PubMed  Google Scholar 

  27. Casey EB, Aminoff MJ. Dystrophia myotonica presenting with dysphagia. Br Med J. 1971;2:443.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  28. Dunn LJ, Dierker LI. Recurrent hydramnios in association with myotonia dystrophica. Obstet Gynecol. 1973;42:104–6.

    CAS  PubMed  Google Scholar 

  29. Canavese F, Sussman MD. Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence. J Pediatr Orthop. 2009;29:208–13.

    Article  PubMed  Google Scholar 

  30. Mashiach R, Rimon E, Achiron R. Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Obstet Gynecol. 2002;20:312–3.

    Article  CAS  PubMed  Google Scholar 

  31. Sarnat HB, O’Connor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol. 1976;33:459–65.

    Article  CAS  PubMed  Google Scholar 

  32. Sjogreen L, Engvall M, Ekstrom AB, Lohmander A, Kiliaridis S, Tulinius M. Orofacial dysfunction in children and adolescents with myotonic dystrophy. Dev Med Child Neurol. 2007;49:18–22.

    Article  PubMed  Google Scholar 

  33. Campbell C, Sherlock R, Jacob P, Blayney M. Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics. 2004;113:811–6.

    Article  PubMed  Google Scholar 

  34. Echenne B, Rideau A, Roubertie A, Sebire G, Rivier F, Lemieux B. Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period. Eur J Paediatr Neurol. 2008;12:210–23.

    Article  PubMed  Google Scholar 

  35. Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA, Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol. 2004;61:1943–7.

    Article  PubMed  Google Scholar 

  36. Angeard N, Gargiulo M, Jacquette A, Radvanyi H, Eymard B, Heron D. Cognitive profile in childhood myotonic dystrophy type 1: is there global impairment? Neuromuscul Disord. 2007;17:451–8.

    Article  PubMed  Google Scholar 

  37. Di Costanzo A, Di Salle F, Santoro L, Bonavita V, Tedeschi G. Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case control study. Neuromuscul Disord. 2002;12:476–83.

    Article  PubMed  Google Scholar 

  38. Di Costanzo A, Santoro L, de Cristofaro M, Manganelli F, Di Salle F, Tedeschi G. Familial aggregation of white matter lesions in myotonic dystrophy type 1. Neuromuscul Disord. 2008;18:299–305.

    Article  PubMed  Google Scholar 

  39. Ekstrom AB, Hakenas-Plate L, Samuelsson L, Tulinius M, Wentz E. Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:918–26.

    Article  PubMed  Google Scholar 

  40. Douniol M, Jacquette A, Guilé JM, et al. Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy. Eur Child Adolesc Psychiatry. 2009;18:705–15.

    Article  PubMed  Google Scholar 

  41. Steyaert J, de Die-Smulders C, Fryns JP, et al. Behavioral phenotype in childhood type of dystrophia myotonica. Am J Med Genet. 2000;96:888–9.

    Article  CAS  PubMed  Google Scholar 

  42. Bassez G, Lazarus A, Desguerre I, et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology. 2004;63:1939–41.

    Article  CAS  PubMed  Google Scholar 

  43. Chebel S, Ben Hamda K, Boughammoura A, et al. Cardiac involvement in Steinert’s myotonic dystrophy. Rev Neurol. 2005;161:932–9.

    Article  CAS  PubMed  Google Scholar 

  44. Delaporte C. Personality patterns in patients with myotonic dystrophy. Arch Neurol. 1998;55:635–40.

    Article  CAS  PubMed  Google Scholar 

  45. Winblad S, Lindberg C, Hansen S. Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). Neuromuscul Disord. 2005;15:287–92.

    Article  CAS  PubMed  Google Scholar 

  46. Thornton CA, Griggs RC, Moxley III RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol. 1994;35:269–72.

    Article  CAS  PubMed  Google Scholar 

  47. Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657–64.

    Article  CAS  PubMed  Google Scholar 

  48. Echenne B, Bassez G. Congenital and infantile myotonic dystrophy. Handb Clin Neurol. 2013;113:1387–93.

    Article  PubMed  Google Scholar 

  49. Day JW, Roelofs R, Leroy B, et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord. 1999;9:19–27.

    Article  CAS  PubMed  Google Scholar 

  50. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol. 1995;52:25–31.

    Article  CAS  PubMed  Google Scholar 

  51. Moxley III RT, Meola G, Udd B, et al. Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13–15th October, 2000. Loosdrecht, The Netherlands. Neuromuscul Disord. 2002;12:306–17.

    Article  PubMed  Google Scholar 

  52. Schoser BG, Ricker K, Schneider-Gold C, et al. Sudden cardiac death in myotonic dystrophy type 2. Neurology. 2004;63:2402–4.

    Article  CAS  PubMed  Google Scholar 

  53. Meola G, Sansone V, Perani D, et al. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM1) and in proximal myotonic myopathy (DM2/PROMM). Neuromuscul Disord. 2003;13:813–21.

    Article  CAS  PubMed  Google Scholar 

  54. Savkur RS, Philips AV, Cooper TA, et al. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet. 2004;74:1309–13.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  55. Anderson VB, McKenzie JA, Seton C, Fitzgerald DA, Webster RI, North KN, et al. Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders. Neuromuscul Disord. 2012;22:528–33.

    Article  PubMed  Google Scholar 

  56. Vinereanu D, Bajaj BP, Fenton-May J, Rogers MT, Madler CF, Fraser AG. Subclinical cardiac involvement in myotonic dystrophy manifesting as decreased myocardial Doppler velocities. Neuromuscul Disord. 2004;14:188–94.

    Article  PubMed  Google Scholar 

  57. Botta A, Bonifazi E, Vallo L, et al. Italian guidelines for molecular analysis of myotonic dystrophies. Acta Myol. 2006;25:23–33.

    CAS  PubMed  Google Scholar 

  58. Martorell L, Cobo AM, Baiget M, Naudo M, Poza JJ, Parra J. Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counseling in DM1 families. Prenat Diagn. 2007;27:68–72.

    Article  PubMed  Google Scholar 

  59. Addis M, Serrenti M, Meloni C, Cau M, Melis MA. Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1. Genet Test Mol Biomarkers. 2012;16:1428–31.

    Google Scholar 

  60. Kwiecinski H, Ryniewicz B, Ostrzycki A. Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand. 1992;86:371–5.

    Article  CAS  PubMed  Google Scholar 

  61. Mostacciuolo ML, Miorin M, Martinello F, Angelini C, Perini P, Trevisan CP. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996;97:277–9.

    Article  CAS  PubMed  Google Scholar 

  62. Hughes MI, Hicks EM, Nevin NC, Patterson VH. The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscul Disord. 1996;6:69–73.

    Article  CAS  PubMed  Google Scholar 

  63. Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10:1–9.

    Article  CAS  PubMed  Google Scholar 

  64. 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;132:3175–86.

    Article  PubMed Central  PubMed  Google Scholar 

  65. Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289–311.

    Article  PubMed  Google Scholar 

  66. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995;11:216–8.

    Article  CAS  PubMed  Google Scholar 

  67. Guicheney P, Vignier N, Helbling-Leclerc A, et al. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscul Disord. 1997;7:180–6.

    Article  CAS  PubMed  Google Scholar 

  68. Philpot J, Cowan F, Pennock J, et al. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord. 1999;9:81–5.

    Article  CAS  PubMed  Google Scholar 

  69. Muntoni F, Torelli S, Wells DJ, Brown SC. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol. 2011;24:437–42.

    Article  CAS  PubMed  Google Scholar 

  70. Wells L. The O-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem. 2013;288:6930–5.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  71. Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med. 2011;364:939–46.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  72. Imbach T, Schenk B, Schollen E, et al. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest. 2000;105:233–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  73. Messina S, Tortorella G, Concolino D, et al. Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology. 2009;73:1599–601.

    Article  CAS  PubMed  Google Scholar 

  74. Yang AC, Ng BG, Moore SA, et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013;110:345–51.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  75. Brinas L, Richard P, Quijano-Roy S, et al. Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol. 2010;68:511–20.

    Article  CAS  PubMed  Google Scholar 

  76. Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011;7:379–90.

    Article  PubMed  Google Scholar 

  77. Nadeau A, Kinali M, Main M, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009;73:25–31.

    Article  CAS  PubMed  Google Scholar 

  78. Foley AR, Quijano-Roy S, Collins J, et al. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013;136:3625–33.

    Article  PubMed Central  PubMed  Google Scholar 

  79. Yonekawa T, Komaki H, Okada M, et al. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry. 2013;84:982–8.

    Article  PubMed  Google Scholar 

  80. Kirschner J, Hausser I, Zou Y, et al. Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes. Am J Med Genet A. 2005;132:296–301.

    Article  Google Scholar 

  81. Jurynec MJ, Xia R, Mackrill JJ, et al. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. Proc Natl Acad Sci U S A. 2008;105:12485–90.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  82. Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009;65:677–86.

    Article  CAS  PubMed  Google Scholar 

  83. Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2002;71:739–49.

    Article  PubMed Central  PubMed  Google Scholar 

  84. Schara U, Kress W, Bonnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008;12:224–30.

    Article  PubMed  Google Scholar 

  85. Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011;76:2073–8.

    Article  CAS  PubMed  Google Scholar 

  86. Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, et al. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012;33:981–8.

    Google Scholar 

  87. Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Zukosky K, Dastgir J, et al. Severe congenital ryr1-associated myopathy: The expanding clinicopathologic and genetic spectrum. Neurology. 2013;80:1584–9.

    Google Scholar 

  88. Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet. 2006;70:261–74.

    Article  CAS  PubMed  Google Scholar 

  89. Worman HJ, Ostlund C, Wang Y. Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol. 2010;2:a000760.

    Article  PubMed Central  PubMed  Google Scholar 

  90. D’Amico A, Haliloglu G, Richard P, et al. Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord. 2005;15:521–4.

    Article  PubMed  Google Scholar 

  91. Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010;43:283–6.

    Article  PubMed  Google Scholar 

  92. Quijano-Roy S, Mbieleu B, Bonnemann CG, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008;64:177–86.

    Article  PubMed  Google Scholar 

  93. Nishino I, Kobayashi O, Goto Y, et al. A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle Nerve. 1998;21:40–7.

    Article  CAS  PubMed  Google Scholar 

  94. Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, et al. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology. 1998;51:101–10.

    Article  CAS  PubMed  Google Scholar 

  95. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014;33:1–12.

    CAS  PubMed Central  PubMed  Google Scholar 

  96. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 1994;3:455–7.

    Article  CAS  PubMed  Google Scholar 

  97. Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 1995;45:768–72.

    Article  CAS  PubMed  Google Scholar 

  98. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-García R, Palmer J, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol. 2001;49:130–4.

    Article  CAS  PubMed  Google Scholar 

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  1. Department of Pediatrics and Clinical Neurosciences, University of Calgary, Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, AB, Canada, T3B 6A8

    Jean K. Mah M.D., M.Sc.

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  1. Jean K. Mah M.D., M.Sc.
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Correspondence to Jean K. Mah M.D., M.Sc. .

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  1. Biosimilars Center of Excellence, Quintiles, Inc., Durham, North Carolina, USA

    Raymond A. Huml

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Mah, J.K. (2015). An Overview of the Other Muscular Dystrophies: Underlying Genetic and Molecular Mechanisms. In: Huml, R. (eds) Muscular Dystrophy. Springer, Cham. https://doi.org/10.1007/978-3-319-17362-7_5

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