Diagnostic approach to the congenital muscular dystrophies

Neuromuscular Disorders

Volumn 24, Issue 4, 2014, Pages 289-311

  Bönnemann, Carsten G ^a   Wang, Ching H ^b   Quijano Roy, Susana ^c   Deconinck, Nicolas ^d   Bertini, Enrico ^e   Ferreiro, Ana ^f   Muntoni, Francesco ^g   Sewry, Caroline ^g   Béroud, Christophe ^h   Mathews, Katherine D ⁱ   Moore, Steven A ⁱ   Bellini, Jonathan ^j   Rutkowski, Anne ^k   North, Kathryn N ^l  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b DRISCOLL CHILDREN S HOSPITAL   (United States)

^c RAYMOND POINCARÉ HOSPITAL   (France)

^d HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h INSERM   (France)

ⁱ UNIVERSITY OF IOWA   (United States)

^j STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k Kaiser SCPMB   (United States)

^l MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

more..

Author keywords

Alpha dystroglycan; Collagen VI; Congenital muscular dystrophy; Diagnostic guideline; Lamin A C; Laminin alpha2; RYR1; SEPN1

Indexed keywords

ALPHA DYSTROGLYCAN; COLLAGEN TYPE 6; LAMININ ALPHA2;

AGE; ALGORITHM; ALLELE; ALPHA DYSTROGLYCAN RELATED DYSTROPHY; ARTICLE; CHKB RELATED CONGENITAL MUSCULAR DYSTROPHY; CLINICAL FEATURE; COLLAGEN VI RELATED DYSTROPHY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL METABOLIC MYOPATHY; CONGENITAL MYASTHENIC SYNDROME; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEREDITARY MUSCLE DISEASE; HUMAN; IMMUNOHISTOCHEMISTRY; JOINT CONTRACTURE; LAMININ ALPHA 2 RELATED DYSTROPHY; LMNA RELATED CONGENITAL MUSCULAR DYSTROPHY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RECESSIVE RYR1 RELATED MYOPATHY; SEPN1 RELATED MYOPATHY; SPINAL MUSCULAR ATROPHY; STAINING; BRAIN; CHILD; CONSENSUS; CONSENSUS DEVELOPMENT; GENETICS; INFANT; LEG; MUSCULAR DYSTROPHIES; PATHOLOGY; PATHOPHYSIOLOGY; PRACTICE GUIDELINE;

BRAIN; CHILD; CONSENSUS; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT; LEG; MAGNETIC RESONANCE IMAGING; MUSCULAR DYSTROPHIES;

EID: 84895794868     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.12.011     Document Type: Article

References (145)

1. Nonaka I., Une Y., Ishihara T., Miyoshino S., Nakashima T., Sugita H. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics 1981, 12:197-208.
2. Kobayashi O., Hayashi Y., Arahata K., Ozawa E., Nonaka I. Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. Neurology 1996, 46:815-818.
3. Reed U.C. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr 2009, 67:144-168.
4. Reed U.C. Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr 2009, 67:343-362.
5. Mercuri E., Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol 2012, 72:9-17.
6. Mostacciuolo M.L., Miorin M., Martinello F., Angelini C., Perini P., Trevisan C.P. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996, 97:277-279.
7. Hughes M.I., Hicks E.M., Nevin N.C., Patterson V.H. The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscul Disord 1996, 6:69-73.
8. Darin N., Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord 2000, 10:1-9.
9. Norwood F.L., Harling C., Chinnery P.F., Eagle M., Bushby K., Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009, 132:3175-3186.
10. Di Blasi C., He Y., Morandi L., Cornelio F., Guicheney P., Mora M. Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. Brain 2001, 124:698-704.
11. Okada M., Kawahara G., Noguchi S., et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007, 69:1035-1042.
12. Peat R.A., Baker N.L., Jones K.J., North K.N., Lamande S.R. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscul Disord 2007, 17:547-557.
13. Shorer Z., Philpot J., Muntoni F., Sewry C., Dubowitz V. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995, 10:472-475.
14. Quijano-Roy S., Renault F., Romero N., Guicheney P., Fardeau M., Estournet B. EMG and nerve conduction studies in children with congenital muscular dystrophy. Muscle Nerve 2004, 29:292-299.
15. Di Muzio A., De Angelis M.V., Di Fulvio P., et al. Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve 2003, 27:500-506.
16. Tomé F.M., Evangelista T., Leclerc A., et al. Congenital muscular dystrophy with merosin deficiency. C. R. Acad. Sci. Paris 1994, 317:251-357.
17. Sewry C.A., Philpot J., Mahony D., Wilson L.A., Muntoni F., Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromuscul Disord 1995, 5:307-316.
18. 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, 11:216-218.
19. 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, 7:180-186.
20. Geranmayeh F., Clement E., Feng L.H., et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010, 20:241-250.
21. Lampe A.K., Zou Y., Sudano D., et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat 2008, 29:809-822.
22. He Y., Jones K.J., Vignier N., et al. Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. Neurology 2001, 57:1319-1322.
23. Sewry C.A., Naom I., D'Alessandro M., et al. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain. Neuromuscul Disord 1997, 7:169-175.
24. 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, 9:81-85.
25. Allamand V., Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet 2002, 10:91-94.
26. Muntoni F., Torelli S., Wells D.J., Brown S.C. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 2011, 24:437-442.
27. Wells L. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem 2013, 288:6930-6935.
28. Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 2011, 364:939-946.
29. Yang A.C., Ng B.G., Moore S.A., et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab 2013, 110:345-351.
30. 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, 105:233-239.
31. Messina S., Tortorella G., Concolino D., et al. Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology 2009, 73:1599-1601.
32. Lefeber D.J., de Brouwer A.P., Morava E., et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet 2011, 7:e1002427.
33. Voit T. Congenital muscular dystrophies: 1997 update. Brain Dev 1998, 20:65-74.
34. Kobayashi K., Nakahori Y., Miyake M., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998, 394:388-392.
35. Yoshida A., Kobayashi K., Manya H., et al. Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1. Dev Cell 2001, 1:717-724.
36. Brockington M., Blake D.J., Prandini P., 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, 69:1198-1209.
37. Brockington M., Yuva Y., Prandini P., 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, 10:2851-2859.
38. Mercuri E., Messina S., Bruno C., et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009, 72:1802-1809.
39. Beltran-Valero De Bernabe D., Currier S., Steinbrecher A., et al. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome. Am J Hum Genet 2002, 71:1033-1043.
40. Longman C., Brockington M., Torelli S., et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003, 12:2853-2861.
41. van Reeuwijk J., Janssen M., van den Elzen C., et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome. J Med Genet 2005, 42:907-912.
42. Godfrey C., Foley A.R., Clement E., Muntoni F. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 2011, 21:278-285.
43. Godfrey C., Escolar D., Brockington M., et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006, 60:603-610.
44. Darin N., Kroksmark A.K., Ahlander A.C., Moslemi A.R., Oldfors A., Tulinius M. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol 2007, 11:353-357.
45. Murakami T., Ishigaki K., Shirakawa S., Ikenaka H., Sakauchi M., Osawa M. Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. Brain Dev 2012, 34:293-297.
46. Murakami T., Hayashi Y.K., Noguchi S., et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 2006, 60:597-602.
47. Kefi M., Amouri R., Chabrak S., Mechmeche R., Hentati F. Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Neuropediatrics 2008, 39:113-115.
48. Clement E., Mercuri E., Godfrey C., et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008, 64:573-582.
49. Clarke N.F., Maugenre S., Vandebrouck A., et al. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet 2011, 19:452-457.
50. Cirak S., Foley A.R., Herrmann R., et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013, 136:269-281.
51. Vuillaumier-Barrot S., Quijano-Roy S., Bouchet-Seraphin C., et al. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord 2009, 19:182-188.
52. Quijano-Roy S., Marti-Carrera I., Makri S., et al. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. Brain Dev 2006, 28:232-242.
53. Yanagisawa A., Bouchet C., Quijano-Roy S., et al. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med Genet 2009, 52:201-206.
54. van Reeuwijk J., Grewal P.K., Salih M.A., et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007, 121:685-690.
55. Godfrey C., Clement E., Mein R., et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130:2725-2735.
56. Kondo-Iida E., Kobayashi K., Watanabe M., et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 1999, 8:2303-2309.
57. Silan F., Yoshioka M., Kobayashi K., et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol 2003, 53:392-396.
58. Mercuri E., Brockington M., Straub V., et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 2003, 53:537-542.
59. Beltran-Valero de Bernabe D., Voit T., Longman C., et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004, 41:e61.
60. D'Amico A., Tessa A., Bruno C., et al. Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006, 66:1564-1567.
61. Messina S., Mora M., Pegoraro E., et al. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord 2008, 18:565-571.
62. Quijano-Roy S., Avila-Smirnow D., Carlier R.Y. WB-MRI muscle study group. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 2012, 22(Suppl 2):S68-S84.
63. Roscioli T., Kamsteeg E.J., Buysse K., et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012, 44:581-585.
64. Willer T., Lee H., Lommel M., et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 2012, 44:575-580.
65. Manzini M.C., Tambunan D.E., Hill R.S., et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012, 91:541-547.
66. Vuillaumier-Barrot S., Bouchet-Séraphin C., Chelbi M., et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 2012, 91:1135-1143.
67. Jae L.T., Raaben M., Riemersma M., et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science 2013, 340:479-483.
68. Stevens E., Carss K.J., Cirak S., et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013, 92:354-365.
69. Carss K.J., Stevens E., Foley A.R., et al. Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013, 93:29-41.
70. Bonnemann C.G. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 2011, 7:379-390.
71. Bertini E., Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol 2002, 6:193-198.
72. Lampe A.K., Bushby K.M. Collagen VI related muscle disorders. J Med Genet 2005, 42:673-685.
73. Brinas L., Richard P., Quijano-Roy S., et al. Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 2010, 68:511-520.
74. Nadeau A., Kinali M., Main M., et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009, 73:25-31.
75. Yonekawa T., Komaki H., Okada M., et al. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry 2013, 84:982-988.
76. Foley A.R., Quijano-Roy S., Collins J., et al. Natural history of pulmonary function in collagen VI-related myopathies. Brain 2013, 136:3625-3633.
77. Bonnemann C.G., Rutkowski A., Mercuri E., Muntoni F. 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Disord 2011, 21:513-522.
78. Quijano-Roy S., Khirani S., Colella M., et al. Diaphragmatic dysfunction in Collagen VI myopathies. Neuromuscul Disord 2013, [Epub ahead of print].
79. Haq R.U., Speer M.C., Chu M.L., Tandan R. Respiratory muscle involvement in Bethlem myopathy. Neurology 1999, 52:174-176.
80. Wang C.H., Bonnemann C.G., Rutkowski A., et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010, 25:1559-1581.
81. 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.
82. Voermans N.C., Jenniskens G.J., Hamel B.C., Schalkwijk J., Guicheney P., van Engelen B.G. Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. Am J Med Genet A 2007, 143A:2215-2219.
83. Baumann M., Giunta C., Krabichler B., et al. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet 2012, 90:201-216.
84. Zou Y., Zwolanek D., Izu Y., et al. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice. Hum Mol Genet 2014, [Epub ahead of print].
85. Hicks D., Farsani G.T., Laval S., et al. Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy. Hum Mol Genet 2014, [Epub ahead of print].
86. Jimenez-Mallebrera C., Maioli M.A., Kim J., et al. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord 2006, 16:571-582.
87. Hicks D., Lampe A.K., Barresi R., et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008, 70:1192-1199.
88. Kim J., Jimenez-Mallebrera C., Foley A.R., et al. Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscul Disord 2011, 22:139-148.
89. Gara S.K., Grumati P., Urciuolo A., et al. Three novel collagen VI chains with high homology to the alpha3 chain. J Biol Chem 2008, 283:10658-10670.
90. Fitzgerald J., Rich C., Zhou F.H., Hansen U. Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). J Biol Chem 2008, 283:20170-20180.
91. Pace R.A., Peat R.A., Baker N.L., et al. Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol 2008, 64:294-303.
92. Baker N.L., Morgelin M., Peat R., et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2005, 14:279-293.
93. Zhang R.Z., Zou Y., Pan T.C., et al. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. J Biol Chem 2010, 285:10005-10015.
94. Lamande S.R., Morgelin M., Selan C., Jobsis G.J., Baas F., Bateman J.F. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem 2002, 277:1949-1956.
95. Butterfield R.J., Foley A.R., Dastgir J., et al. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 2013, 34:1558-1567.
96. Foley A.R., Hu Y., Zou Y., et al. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 2009, 19:813-817.
97. Gualandi F., Urciuolo A., Martoni E., et al. Autosomal recessive Bethlem myopathy. Neurology 2009, 73:1883-1891.
98. Bovolenta M., Neri M., Martoni E., et al. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet 2010, 11:44.
99. Foley A.R., Hu Y., Zou Y., et al. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol 2011, 69:206-211.
100. 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, 65:677-686.
101. Jurynec M.J., Xia R., Mackrill J.J., et al. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. Proc Natl Acad Sci USA 2008, 105:12485-12490.
102. 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, 71:739-749.
103. Schara U., Kress W., Bonnemann C.G., et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 2008, 12:224-230.
104. Scoto M., Cirak S., Mein R., et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011, 76:2073-2078.
105. Clarke N.F., Kidson W., Quijano-Roy S., et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006, 59:546-552.
106. Lescure A., Rederstorff M., Krol A., Guicheney P., Allamand V. Selenoprotein function and muscle disease. Biochim Biophys Acta 2009, 1790:1569-1574.
107. Allamand V., Richard P., Lescure A., et al. A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. EMBO Rep 2006, 7:450-454.
108. Rederstorff M., Allamand V., Guicheney P., et al. Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon. Nucleic Acids Res 2008, 36:237-244.
109. Maiti B., Arbogast S., Allamand V., et al. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. Hum Mutat 2009, 30:411-416.
110. Klein A., Lillis S., Munteanu I., et al. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 2012, 33:981-988.
111. Bharucha-Goebel D.X., Santi M., Medne L., et al. Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum. Neurology 2013, 80:1584-1589.
112. Rankin J., Ellard S. The laminopathies: a clinical review. Clin Genet 2006, 70:261-274.
113. Worman H.J., Ostlund C., Wang Y. Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol 2010, 2:a000760.
114. Mercuri E., Poppe M., Quinlivan R., et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004, 61:690-694.
115. Quijano-Roy S., Mbieleu B., Bonnemann C.G., et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008, 64:177-186.
116. 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, 15:521-524.
117. Prigogine C., Richard P., Van den Bergh P., Groswasser J., Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol 2010, 43:283-286.
118. Benedetti S., Menditto I., Degano M., et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007, 69:1285-1292.
119. Nishino I., Kobayashi O., Goto Y., et al. A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle Nerve 1998, 21:40-47.
120. Dubowitz V., Sewry C., Oldfors A. Muscle biopsy: A practical approach 2013, Elsevier Saunders, St. Louis, MO.
121. Nonaka I., Sugita H., Takada K., Kumagai K. Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement. Muscle Nerve 1982, 5:102-106.
122. Kihira S., Nonaka I. Congenital muscular dystrophy. A histochemical study with morphometric analysis on biopsied muscles. J Neurol Sci 1985, 70:139-149.
123. Barresi R., Campbell K.P. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 2006, 119:199-207.
124. Schessl J., Goemans N.M., Magold A.I., et al. Predominant fiber atrophy and fiber type disproportion in early ullrich disease. Muscle Nerve 2008, 38:1184-1191.
125. Mitsuhashi S., Ohkuma A., Talim B., et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet 2011, 88:845-851.
126. Barresi R. From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skelet Muscle 2011, 1:24.
127. Claeys K.G., Schrading S., Bozkurt A., et al. Myopathy with lobulated fibers, cores, and rods caused by a mutation in collagen VI. Neurology 2012, 79:2288-2290.
128. Pan T.C., Zhang R.Z., Sudano D.G., Marie S.K., Bonnemann C.G., Chu M.L. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003, 73:355-369.
129. Ishikawa H., Sugie K., Murayama K., et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004, 62:620-623.
130. Moghadaszadeh B., Petit N., Jaillard C., et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001, 29:17-18.
131. Ferreiro A., Ceuterick-de Groote C., Marks J.J., et al. Desmin-related myopathy with mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol 2004, 55:676-686.
132. Komaki H., Hayashi Y.K., Tsuburaya R., et al. Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord 2011, 21:563-568.
133. Brockmann K., Becker P., Schreiber G., Neubert K., Brunner E., Bonnemann C. Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood. Neuromuscul Disord 2007, 17:517-523.
134. Pillen S., Arts I.M., Zwarts M.J. Muscle ultrasound in neuromuscular disorders. Muscle Nerve 2008, 37:679-693.
135. Mercuri E., Clements E., Offiah A., et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 2010, 67:201-208.
136. Deconinck N., Dion E., Ben Yaou R., et al. Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. Neuromuscul Disord 2010, 20:517-523.
137. Mercuri E., Jungbluth H., Muntoni F. Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol 2005, 18:526-537.
138. Mercuri E., Cini C., Counsell S., et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 2002, 6:309-314.
139. Mercuri E., Lampe A., Allsop J., et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005, 15:303-310.
140. Bonnemann C.G., Brockmann K., Hanefeld F. Muscle ultrasound in bethlem myopathy. Neuropediatrics 2003, 34:335-336.
141. Quijano-Roy S., Carlier R.Y., Fischer D. Muscle imaging in congenital myopathies. Semin Pediatr Neurol 2011, 18:221-229.
142. Flanigan K.M., Kerr L., Bromberg M.B., et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol 2000, 47:152-161.
143. Mercuri E., Talim B., Moghadaszadeh B., et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002, 12:631-638.
144. Manya H., Bouchet C., Yanagisawa A., et al. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Neuromuscul Disord 2008, 18:45-51.
145. Valencia C.A., Rhodenizer D., Bhide S., et al. Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn 2012, 14:233-246.