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Congenital Muscular Dystrophy: Multimedia
Updated: Feb 12, 2009
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References
Fukuyama Y, Kwazura M, Haruna H. A peculiar form of congenital muscular dystrophy. Paediatr Univ Tokyo. 1960;4:5-8.
Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord. Oct 2004;14(10):635-49. [Medline].
Schara U, Kress W, Bönnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. May 2008;12(3):224-30. [Medline].
Akiyama T, Ohtsuka Y, Takata T, Hattori J, Kawakita Y, Saito K. The mildest known case of Fukuyama-type congenital muscular dystrophy. Brain Dev. Sep 2006;28(8):537-40. [Medline].
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. Ann Neurol. Nov 2006;60(5):603-10. [Medline].
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. Nov 2006;60(5):597-602. [Medline].
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. Oct 2007;130(Pt 10):2725-35. [Medline].
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B. 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. Neuromuscul Disord. Apr 2005;15(4):271-5. [Medline].
van Reeuwijk J, Grewal PK, Salih MA, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. Jul 2007;121(6):685-90. [Medline].
Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol. Feb 2008;67(2):144-54. [Medline].
Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. Jun 2008;29(6):809-22. [Medline].
Keramaris-Vrantsis E, Lu PJ, Doran T, Zillmer A, Ashar J, Esapa CT. Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. Muscle Nerve. Oct 2007;36(4):455-65. [Medline].
Baker NL, Morgelin M, Peat R, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. Jan 15 2005;14(2):279-93. [Medline].
Barresi R, Michele DE, Kanagawa M. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. Jul 2004;10(7):696-703. [Medline].
Batten FE. Three cases of myopathy, infantile type. Brain. 1903;26:147-8.
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. Nov 2002;71(5):1033-43. [Medline].
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. Mar 1 2005;14(5):657-65. [Medline].
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. Jun 19 2001;98(13):7516-21. [Medline].
Center for Human and Clinical Genetics. Leiden University Medical Center. Leiden Muscular Dystrophy Pages: Duchenne and Duchenne-like muscular dystrophies. Available at: http://www.dmd.nl. [Full Text].
Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. Neuromuscul Disord. Mar 2005;15(3):207-17. [Medline].
Currier SC, Lee CK, Chang BS, et al. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. Feb 15 2005;133(1):53-7. [Medline].
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. Aug 2005;15(8):521-4. [Medline].
D'Amico A, Tessa A, Bruno C, et al. Expanding the clinical spectrum of POMT1 phenotype. Neurology. May 23 2006;66(10):1564-7; discussion 1461. [Medline].
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. Oct 2005;62(10):1582-6. [Medline].
Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med. Mar 1973;66(3):219-20. [Medline].
Esapa CT, McIlhinney RA, Blake DJ. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. Jan 15 2005;14(2):295-305. [Medline].
Giusti B, Lucarini L, Pietroni V, et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol. Sep 2005;58(3):400-10. [Medline].
Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet. Jun 2001;28(2):151-4. [Medline].
Grewal PK, McLaughlan JM, Moore CJ, et al. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology. Oct 2005;15(10):912-23. [Medline].
Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta. Nov 2005;361(1-2):54-79. [Medline].
Haliloglu G, Gross C, Senbil N. Clinical spectrum of muscle-eyebraindisease: From the typical presentation to severe autistic features. Acta Myol. 2004;23:137-139.
Hayashi YK, Chou FL, Engvall E, et al. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. May 1998;19(1):94-7. [Medline].
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. Oct 1995;11(2):216-8. [Medline].
Henion TR, Qu Q, Smith FI. Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. Apr 10 2003;112(1-2):177-81. [Medline].
Howard RA. A case of congenital defect of the muscular system (dystrophia muscularis congenita) and its association with congenital talipes equino-varus. Proc R Soc Med. 1908;1:157-66.
Jimenez-Mallebrera C, Brown SC, Sewry CA, et al. Congenital muscular dystrophy: molecular and cellular aspects. Cell Mol Life Sci. Apr 2005;62(7-8):809-23. [Medline].
Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. Jul 23 1998;394(6691):388-92. [Medline].
Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet. Sep 2005;42(9):673-85. [Medline].
Liu J, Ball SL, Yang Y, et al. A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). Mech Dev. Mar 2006;123(3):228-40. [Medline].
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. Nov 1 2003;12(21):2853-61. [Medline].
Martin PT. The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol. Sep 2005;12(3):152-8. [Medline].
Matsumoto H, Hayashi YK, Kim DS, et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromuscul Disord. May 2005;15(5):342-8. [Medline].
Mayer U, Saher G, Fassler R, et al. Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Nat Genet. Nov 1997;17(3):318-23. [Medline].
Mercuri E, Topaloglu H, Brockington M, et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol. Feb 2006;63(2):251-7. [Medline].
Moghadaszadeh B, Petit N, Jaillard C, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. Sep 2001;29(1):17-8. [Medline].
Moore SA, Saito F, Chen J, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. Jul 25 2002;418(6896):422-5. [Medline].
Pestronk A. Washington University Neuromuscular Disease Center Web page. 1999. Available at: http://www.neuro.wustl.edu/neuromuscular. [Full Text].
Raitta C, Lamminen M, Santavuori P, Leisti J. Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol (Copenh). Jun 1978;56(3):465-72. [Medline].
Rederstorff M, Krol A, Lescure A, et al. Understanding the importance of selenium and selenoproteins in muscle function. Cell Mol Life Sci. Jan 2006;63(1):52-9. [Medline].
Santavuori P, Leisti J, Kruus S. Muscle-eye-brain disease: a new syndrome. Neuropadiatrie. 1977;8(suppl):550.
Taniguchi K, Kobayashi K, Saito K, et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. Mar 1 2003;12(5):527-34. [Medline].
Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. Apr 1994;317(4):351-7. [Medline].
Tsao CY, Mendell JR. The childhood muscular dystrophies: making order out of chaos. Semin Neurol. 1999;19(1):9-23. [Medline].
Vainzof M, Richard P, Herrmann R, et al. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscul Disord. Oct 2005;15(9-10):588-94. [Medline].
van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. Dec 2005;42(12):907-12. [Medline].
van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat. May 2006;27(5):453-9. [Medline].
Voit T, Tome FS. The congenital muscular dystrophies. In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill. 2004: 1203-38.
Walker AE. Lissencephaly. Arch Neurol Psychiat. 1942;48:13-29.
Warburg M. Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling. Hum Hered. 1976;26(2):137-48. [Medline].
Willer T, Prados B, Falcon-Perez JM, et al. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Proc Natl Acad Sci U S A. Sep 28 2004;101(39):14126-31. [Medline].
Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. Nov 2001;1(5):717-24. [Medline].
Further Reading
Keywords
Finnish-type congenital muscular dystrophy, Fukuyama congenital muscular dystrophy, integrin-alpha7 beta1-deficiency disease, laminin-alpha2 merosin-deficiency disease, muscle-eye-brain disease, Walker-Warburg congenital muscular dystrophy, CMD, Walker-Warburg syndrome, WWS, WW syndrome, MEB disease


Multimedia: Congenital Muscular Dystrophy