Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 80-89 , June 2006

Congenital Muscular Dystrophies and the Extracellular Matrix

  • Joachim Schessl, MD
    • ,
  • Yaqun Zou, MD
    • ,
  • Carsten G. Bönnemann, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Carsten G. Bönnemann, MD, The Children’s Hospital of Philadelphia, Division of Neurology, Abramson Research Center 516 F, 34th St and Civic Center Blvd., Philadelphia, PA 19104.

References 

  1. 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
  2. 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
  3. Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60:1246–1251
  4. Harel T, Goldberg Y, Shalev SA, et al. Limb-girdle muscular dystrophy 2I: Phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Eur J Hum Genet. 2004;12:38–43
  5. Jimenez-Mallebrera C, Brown SC, Sewry CA, et al. Congenital muscular dystrophy: Molecular and cellular aspects. Cell Mol Life Sci. 2005;62:809–823
  6. 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
  7. 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
  8. Hayashi YK, Chou FL, Engvall E, et al. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. 1998;19:94–97
  9. 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
  10. Grewal PK, Hewitt JE. Glycosylation defects: A new mechanism for muscular dystrophy?. Hum Mol Genet. 2003;2:259–264
  11. Muntoni F. Journey into muscular dystrophies caused by abnormal glycosylation. Acta Myol. 2004;23:79–84
  12. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388–392
  13. 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
  14. Michele DE, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417–422
  15. van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet. 2005;67:281–289
  16. Brancaccio A. Alpha-dystroglycan, the usual suspect?. Neuromuscul Disord. 2005;15:825–828
  17. Golden JA. Lissencephaly, type II (Cobblestone). In:  Golden JA,  Harding BN editor. Pathology & Genetics: Developmental Neuropathology. Basel: ISN Neuropath; 2004;p. 42–48
  18. Saito Y, Motoyoshi Y, Kashima T, et al. Unique tauopathy in Fukuyama-type congenital muscular dystrophy. J Neuropathol Exp Neurol. 2005;64:1118–1126
  19. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type—Clinical, genetic and pathological considerations. Brain Dev. 1981;3:1–29
  20. Mercuri E, Longman C. Congenital muscular dystrophy. Pediatr Ann. 2005;34:560-562, 564-568
  21. Yoshioka M, Saiwai S, Kuroki S, et al. MR imaging of the brain in Fukuyama-type congenital muscular dystrophy. AJNR Am J Neuroradiol. 1991;12:63–65
  22. Toda T, Kobayashi K, Kondo-Iida E, et al. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord. 2000;10:153–159
  23. Yoshioka M, Kuroki S, Kondo T. Ocular manifestations in Fukuyama type congenital muscular dystrophy. Brain Dev. 1990;12:423–426
  24. Aravind L, Koonin EV. The fukutin protein family-predicted enzymes modifying cell-surface molecules. Curr Biol. 1999;9:836–837
  25. Muntoni F, Voit T. 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:794–801
  26. Santavuori P, Leisti J, Kruus S, et al. Muscle, eye and brain disease: A new syndrome. Doc Ophthalmol Proc Series. 1978;17:393–396
  27. Santavuori P, Somer H, Sainio K, et al. Muscle-eye-brain disease (MEB). Brain Dev. 1989;11:147–153
  28. Cormand B, Avela K, Pihko H, et al. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet. 1999;64:126–135
  29. 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
  30. Mercuri E, D’Amico A, Tessa A, Berardinelli A, Pane M, Messina S, et al. POMT2 mutation in a patient with ‘MEB-like’ phenotype. Neuromuscul Disord. 2006;16:446–448
  31. Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989;32:195–210
  32. Dobyns WB, Kirkpatrick JB, Hittner HM, et al. Syndromes with lissencephaly (II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly). Am J Med Genet. 1985;22:157–195
  33. Gerding H, Gullotta F, Kuchelmeister K, et al. Ocular findings in Walker-Warburg syndrome. Childs Nerv Syst. 1993;9:418–420
  34. Dubowitz V, Fardeau M. Proceedings of the 27th ENMC-sponsored workshop on congenital muscular dystrophy, 22-24 April 1994, The Netherlands. Neuromuscul Disord. 1995;5:253–258
  35. Muntoni F, Guicheney P. 85th ENMC International Workshop on Congenital Muscular Dystrophy (6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project ‘GENRE’. 27-28th October 2000, Naarden, The Netherlands). Neuromuscul Disord. 2002;12:69–78
  36. Mercuri E, Sewry C, Brown SC, et al. Congenital muscular dystrophies. Semin Pediatr Neurol. 2002;9:120–131
  37. Strahl-Bolsinger S, Gentzsch M, Tanner W. Protein O-mannosylation. Biochim Biophys Acta. 1999;1426:297–307
  38. Manya H, Chiba A, Yoshida A, et al. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A. 2004;101:500–505
  39. 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
  40. de Bernabe DB, van Bokhoven H, van Beusekom E, et al. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003;40:845–848
  41. 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
  42. Brockington M, Blake DJ, 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
  43. Boito CA, Melacini P, Vianello A, et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol. 2005;62:1894–1899
  44. Torelli S, Brown SC, Brockington M, et al. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscul Disord. 2005;15:836–843
  45. 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
  46. Kirschner J, Bönnemann CG. The congenital and limb-girdle muscular dystrophies: Sharpening the focus, blurring the boundaries. Arch Neurol. 2004;61:189–199
  47. Brockington M, Sewry CA, Herrmann R, et al. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet. 2000;66:428–435
  48. 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
  49. Brockington M, Torelli S, Prandini P, et al. Localization and functional analysis of the LARGE family of glycosyltransferases: Significance for muscular dystrophy. Hum Mol Genet. 2005;14:657–665
  50. Kanagawa M, Saito F, Kunz S, et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell. 2004;117:953–964
  51. Colognato H, Yurchenco PD. Form and function: The laminin family of heterotrimers. Dev Dyn. 2000;218:213–234
  52. Yurchenco PD, Amenta PS, Patton BL. Basement membrane assembly, stability and activities observed through a developmental lens. Matrix Biol. 2004;22:521–538
  53. Philpot J, Sewry C, Pennock J, et al. Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle. Neuromuscul Disord. 1995;5:301–305
  54. Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994;317:351–357
  55. Philpot J, Bagnall A, King C, et al. Feeding problems in merosin deficient congenital muscular dystrophy. Arch Dis Child. 1999;80:542–547
  56. Leite CC, Reed UC, Otaduy MC, et al. Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. Radiology. 2005;235:190–196
  57. Mercuri E, Gruter-Andrew J, Philpot J, et al. Cognitive abilities in children with congenital muscular dystrophy: Correlation with brain MRI and merosin status. Neuromuscul Disord. 1999;9:383–387
  58. 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
  59. Sunada Y, Edgar TS, Lotz BP, et al. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology. 1995;45:2084–2089
  60. Leite CC, Lucato LT, Martin MG, et al. Merosin-deficient congenital muscular dystrophy (CMD): A study of 25 Brazilian patients using MRI. Pediatr Radiol. 2005;35:572–579
  61. Jones KJ, Morgan G, Johnston H, et al. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: Case series and review. J Med Genet. 2001;38:649–657
  62. Shorer Z, Philpot J, Muntoni F, et al. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol. 1995;10:472–475
  63. 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
  64. Di Blasi C, Piga D, Brioschi P, et al. LAMA2 gene analysis in congenital muscular dystrophy: New mutations, prenatal diagnosis, and founder effect. Arch Neurol. 2005;62:1582–1586
  65. 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
  66. Heiskanen M, Saitta B, Palotie A, et al. Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH. Genomics. 1995;29:801–803
  67. Weil D, Mattei MG, Passage E, et al. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet. 1988;42:435–445
  68. Kuo HJ, Maslen CL, Keene DR, et al. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem. 1997;72:26522–26529
  69. Tillet E, Wiedemann H, Golbik R, et al. Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. Eur J Biochem. 1994;221:177–185(erratum in: Eur J Biochem 222:1064, 1994)
  70. Muntoni F, Voit T. The congenital muscular dystrophies in 2004: A century of exciting progress. Neuromuscul Disord. 2004;14:635–649
  71. Ullrich O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredogenerativen Erkrankungen des neuromuskulaeren Systems. Z Ges Neurol Psychatr. 1930;126:171–201
  72. Mercuri E, Yuva Y, Brown SC, et al. Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study. Neurology. 2002;58:1354–1359
  73. Pepe G, Bertini E, Bonaldo P, et al. Bethlem myopathy (BETHLEM) and Ullrich scleratonic muscular dystrophy. 100th ENMC-sponsored International Workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord. 2002;12:984–993
  74. 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
  75. Camacho-Vanegas O, Bertini E, Zhang RZ, 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
  76. Higuchi I, Shiraishi T, Hashiguchi T, et al. Frameshift mutation in the collagen VI gene causes Ullrich’s disease. Ann Neurol. 2001;50:261–265
  77. Demir E, Sabatelli P, Allamand V, et al. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002;70:1446–1458
  78. Pan TC, Zhang RZ, Sudano DG, 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
  79. Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet. 2005;42:673–685
  80. Jobsis GJ, Boers JM, Barth PG. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain. 1999;122:649–655
  81. Irwin WA, Bergamin N, Sabatelli P, et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet. 2003;35:367–371
  82. Moll J, Barzaghi P, Lin S, et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature. 2001;413:302–307
  83. Barresi R, Michele DE, Kanagawa M, et al. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004;10:696–703
  84. Sellick GS, Longman C, Brockington M, et al. Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3. Hum Genet. 2005;117:207–212
  85. Villanova M, Mercuri E, Bertini E, et al. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: Evidence for a novel CMD syndrome. Neuromuscul Disord. 2000;10:541–547
  86. Voit T, Parano E, Straub V, et al. Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: A novel form of CMD. Neuromuscul Disord. 2002;12:623–630
  87. Ruggieri V, Lubieniecki F, Meli F, et al. Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: Report of three siblings. Neuromuscul Disord. 2001;11:570–578
  88. Echenne B, Rivier F, Tardieu M, et al. Congenital muscular dystrophy and cerebellar atrophy. Neurology. 1998;50:1477–1480
  89. Tetreault M, Duquette A, Thiffault I, et al. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006;129:2077–2084

 CGB was a Pew Scholar in the Biomedical Sciences and is supported by grants from MDA USA and NIH/NIAMS (R01AR051999).

PII: S1071-9091(06)00093-3

doi: 10.1016/j.spen.2006.06.003

Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 80-89 , June 2006

Article Tools

* Image Usage & Resolution