Congenital Muscular Dystrophies: A Brief Review

Seminars in Pediatric Neurology

Volumn 18, Issue 4, 2011, Pages 277-288

  Bertini, Enrico ^a   D'Amico, Adele ^a   Gualandi, Francesca ^b   Petrini, Stefania ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; MEROSIN;

ALPHA DYSTROGLYCANOPATHY; ARTICLE; BRAIN RADIOGRAPHY; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; CREATINE KINASE BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; LAMA2 ENE; LMNA ENE; MEROSIN DEFICIENCY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PROTEIN DEFICIENCY; RYR1 GENE; SEPN1 GENE; SKIN BIOPSY; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

COLLAGEN TYPE VI; GENETIC ASSOCIATION STUDIES; HUMANS; LAMININ; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PHENOTYPE;

EID: 83455173183     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2011.10.010     Document Type: Article

References (101)

1. Lisi M.T., Cohn R.D. Congenital muscular dystrophies: New aspects of an expanding group of disorders. Biochim Biophys Acta 2007, 1772:159-172.
2. Bönnemann C.G. Congenital muscular dystrophy. Encyclopedia of Neuroscience 2008, 67-74. Academic Press, London, Oxford, Boston, New York, San Diego. L.R. Squire (Ed.).
3. Muntoni F., Torelli S., Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics 2008, 5:627-632.
4. Darin N., Tulinius M. Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden. Neuromuscul Disord 2000, 10:1-9.
5. Norwood F.L., Harling C., Chinnery P.F., et al. Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population. Brain 2009, 132:3175-3186.
6. 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.
7. Lisi E.C., Cohn R.D. Genetic evaluation of the pediatric patient with hypotonia: Perspective from a hypotonia specialty clinic and review of the literature. Dev Med Child Neurol 2011, 53:586-599.
8. Godfrey C., Escolar D., Brockington M., et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006, 60:603-610.
9. Bamshad M., Van Heest A.E., Pleasure D. Arthrogryposis: A review and update. J Bone Joint Surg Am 2009, 91:40-46.
10. Mercuri E., Counsell S., Allsop J., et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002, 33:10-14.
11. Mercuri E., Lampe A., Allsop J., et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005, 15:303-310.
12. 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.
13. 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.
14. Quijano-Roy S., Renault F., Romero N., et al. EMG and nerve conduction studies in children with congenital muscular dystrophy. Muscle Nerve 2004, 29:292-299.
15. Tomé F.M., Evangelista T., Leclerc A., et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris 1994, 317:351-357.
16. 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.
17. 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.
18. Guicheney P., Vignier N., Zhang X., et al. PCR based mutation screening in the laminin alpha-2 chain gene (LAMA2): Application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. J Med Genet 1998, 35:211-217.
19. 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.
20. 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.
21. Spyrou N., Philpot J., Foale R., et al. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J 1998, 136:474-476.
22. Di Blasi C., He Y., Morandi L., et al. Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. Brain 2001, 124:698-704.
23. Beltrán-Valero de Bernabé 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.
24. 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.
25. Kobayashi K., Nakahori Y., Miyake M., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998, 394:388-392.
26. 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.
27. 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.
28. 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.
29. Michele D.E., Barresi R., Kanagawa M., et al. Post-translational disruption of dystroglycan ligand interactions in congenital muscular dystrophies. Nature 2002, 418:417-421.
30. Jimenez-Mallebrera C., Torelli S., Feng L., et al. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2009, 19:596-611.
31. 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.
32. Clement E., Mercuri E., Godfrey C., et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008, 64:573-582.
33. Quijano-Roy S., Martí-Carrera I., Makri S., et al. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. Brain Dev 2006, 28:232-242.
34. 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.
35. Bahi-Buisson N., Poirier K., Boddaert N., et al. GPR56-related bilateral frontoparietal polymicrogyria: Further evidence for an overlap with the cobblestone complex. Brain 2010, 133:3194-3209.
36. Shashidhar S., Lorente G., Nagavarapu U., et al. GPR56 is a GPCR that is overexpressed in gliomas and functions in tumor cell adhesion. Oncogene 2005, 24:1673-1682.
37. 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.
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. Mercuri E., Topaloglu H., Brockington M., et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol 2006, 63:251-257.
40. Bouchet C., Gonzales M., Vuillaumier-Barrot S., et al. Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat 2007, 28:1020-1027.
41. Yanagisawa A., Bouchet C., Van den Bergh P.Y., et al. New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation. Neurology 2007, 69:1254-1260.
42. D'Amico A., Tessa A., Bruno C., et al. Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006, 66:1564-1567.
43. 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.
44. Biancheri R., Falace A., Tessa A., et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun 2007, 363:1033-1037.
45. Taniguchi K., Kobayashi K., Saito K., et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 2003, 12:527-534.
46. 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.
47. 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.
48. 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.
49. Quijano-Roy S., Galan L., Ferreiro A., et al. Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency. Neuromuscul Disord 2002, 12:466-475.
50. Louhichi N., Triki C., Quijano-Roy S., 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.
51. 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.
52. 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.
53. 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.
54. Messina S., Tortorella G., Concolino D., et al. Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology 2009, 73:1599-1601.
55. Timpl R., Chu M.L. Extracellular Matrix Assembly and Structure 1994, 207-241. Academic Press, New York. P.D. Yurchenko, D. Birk, R.P. Mecham (Eds.).
56. Chu M.-L., Mann K., Deutzmann R., et al. Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. Eur J Biochem 1987, 168:309-317.
57. Bidanset D.J., Guidry C., Rosenberg L.C., et al. Binding of the proteoglycan decorin to collagen type VI. J Biol Chem 1992, 267:5250-5266.
58. Bonaldo P., Russo V., Bucciotti F., et al. Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues. Biochemistry 1990, 29:1245-1254.
59. Sabatelli P., Bonaldo P., Lattanzi G., et al. Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol 2001, 20:475-486.
60. Finnis M.L., Gibson M.A. Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen. J Biol Chem 1997, 272:22817-22823.
61. Wiberg C., Klatt A.R., Wagener R., et al. Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan. J Biol Chem 2003, 278:37698-37704.
62. Kuo H.-J., Maslen C.L., Keene D.R., et al. Type VI collagen anchors endothelial basement membranes by integrating with type IV collagen. J Biol Chem 1997, 272:26522-26529.
63. Petrini S., Tessa A., Stallcup W.B., et al. Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency. Mol Cell Neurosci 2005, 30:408-417.
64. 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.
65. Bönnemann C.G. Congenital muscular dystrophy. Encyclopedia of Neuroscience 2008, 67-74. Academic Press, London, Oxford, Boston, New York, San Diego. L.R. Squire (Ed.).
66. Nonaka I., Une Y., Ishihara T., et al. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics 1981, 12:197-208.
67. Camacho Vanegas O., Bertini E., Zhang R.Z., et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001, 98:7516-7521.
68. Nadeau A., Jimenez-Mallebrera C., Aloysius A., et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009, 73:25-31.
69. Pan T.C., Zhang R.Z., Sudano D.G., et al. 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.
70. Ishikawa H., Sugie K., Murayama K., et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004, 62:620-623.
71. Baker N.L., Mörgelin 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.
72. Lampe A.K., Bushby K.M. Collagen VI related muscle disorders. J Med Genet 2005, 42:673-685.
73. Petrini S., D'Amico A., Sale P., et al. Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. Neuromuscul Disord 2007, 17:587-596.
74. Foley A.R., Hu Y., Zou Y., et al. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 2009, 19:813-817.
75. Gualandi F., Urciuolo A., Martoni E., et al. Autosomal recessive Bethlem myopathy. Neurology 2009, 73:1883-1891.
76. Scacheri P.C., Gillanders E.M., Subramony S.H., et al. Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype. Neurology 2002, 58:593-602.
77. Lamandé S.R., Bateman J.F., Hutchison W., et al. Reduced collagen VI causes Bethlem myopathy: A heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. Hum Mol Genet 1998, 7:981-989.
78. Hicks D., Lampe A.K., Barresi R., et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008, 70:1192-1199.
79. Briñas L., Richard P., Quijano-Roy S., et al. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol 2010, 68:511-520.
80. Merlini L., Martoni E., Grumati P., et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008, 71:1245-1253.
81. Haq R.U., Speer M.C., Chu M.L., et al. Respiratory muscle involvement in Bethlem myopathy. Neurology 1999, 52:174-176.
82. 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.
83. 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.
84. 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.
85. 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.
86. Voermans N.C., Jenniskens G.J., Hamel B.C., et al. 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.
87. Arbogast S., Beuvin M., Fraysse B., et al. Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment. Ann Neurol 2009, 65:677-686.
88. Jurynec M.J., Xia R., Mackrill J.J., et al. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebra fish muscle. Proc Natl Acad Sci U S A 2008, 105:12485-12490.
89. 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.
90. Ferreiro A., Monnier N., Romero N.B., et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002, 51:750-759.
91. 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.
92. 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.
93. 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.
94. Schara U., Kress W., Bönnemann 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.
95. 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.
96. Lescure A., Rederstorff M., Krol A., et al. Selenoprotein function and muscle disease. Biochim Biophys Acta 2009, 1790:1569-1574.
97. 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.
98. 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.
99. 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.
100. Worman H.J., Ostlund C., Wang Y. Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol 2010, 2:a000760.
101. Quijano-Roy S., Mbieleu B., Bönnemann C.G., et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008, 64:177-186.