Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: A report of two siblings

Neuromuscular Disorders

Volumn 8, Issue 3-4, 1998, Pages 169-174

  Topaloglu, Haluk ^a   Talim, Beril ^a   Vignier, Nicolas ^b   Helbling Leclerc, Anne ^b   Yetük, Mürüvet ^a   Afşin, I Ethem ^c   Çaglar, Melda ^a   Kale, Gülsev ^a   Guicheney, Pascale ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c State Hospital   (Turkey)

Author keywords

Congenital muscular dystrophy; Mental retardation; Merosin deficiency

Indexed keywords

MEROSIN;

CASE REPORT; CHILD; CONFERENCE PAPER; DISEASE CLASSIFICATION; FEMALE; GENETIC ANALYSIS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

BRAIN; CHILD; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; LAMININ; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUSCULAR DYSTROPHIES; PEDIGREE; REFERENCE VALUES;

EID: 0032078664     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00013-3     Document Type: Conference Paper

References (30)

1. Donner M., Rapola J., Somer H. Congenital muscular dystrophy. A clinicopathological and follow-up study of 15 patients. Neuropediatrie. 6:1975;239-258.
2. Santavuori P., Leisti J., Kruus S. Muscle, eye and brain disease: a new syndrome (abstract). Neuropediatrie. 8(Suppl.):1977;553.
3. Fukuyama Y., Osawa M., Suzuki H. Congenital muscular dystrophy of the Fukuyama type. Clinical, genetic, and pathological considerations. Brain Dev (Tokyo). 3:1981;1-29.
4. McMenamin J.B., Becker L.E., Murphy E.G. Congenital muscular dystrophy: a clinicopathological report of 24 cases. J Pediatr. 100:1982;692-697.
5. Dobyns W.B., Pagon A.R., Armstrong D.et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 32:1989;195-210.
6. Dubowitz V. Workshop report on 22nd ENMC sponsored meeting on congenital muscular dystrophy, Baarn, Holland, 14-16 May 1993. Neuromusc Disord. 4:1994;75-81.
7. Doriguzzi C., Palmucci L., Mongini T.et al. Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. Eur Neurol. 33:1993;454-460.
8. Nihei K., Kamoshita S., Atsumi T. A case of Ullrich's disease. Brain Dev (Tokyo). 1:1979;61-67.
9. Topaloglu H., Kale G., Yalnizoglu D.et al. Analysis of 'pure' congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebro-muscular dystrophy? Neuropediatrics. 25:1994;94-100.
10. Tomé F.M.S., Evangelista T., Leclerc A.et al. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Paris. Sciences de la vie/Life Sci. 317:1994;351-357.
11. Sewry C.A., Phipot J., Mahony D., Wilson L.A., Muntoni F., Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord. 5:1995;307-316.
12. Hillaire D., Leclerc A., Fauré S.et al. Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet. 3:1994;1657-1661.
13. Helbling-Leclerc A., Zhang X., Topaloglu H.et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat. Genet. 11:1995;216-218.
14. Nissinen M., Helbling-Leclerc A., Zhang X.et al. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet. 58:1996;1177-1184.
15. Tan E., Topaloglu H., Sewry C.et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromusc Disord. 7:1997;85-89.
16. Allamand V., Sunada Y., Salih M.A.M.et al. Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2 chain. Hum Mol Genet. 6:1997;747-752.
17. Fardeau M., Tomé F., Helbling-Leclerc A.et al. Dystrophie musculaire congénitale avec déficience en mérosine: analyse clinique, histopathologique, immunocytochimique et génétique. Rev Neurol (Paris). 152:1996;11-19.
18. Toda T., Segawa M., Nomura Y.et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 5:1993;283-286.
19. Toda T., Ikegawa S., Okui K.et al. Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet. 55:1994;946-950.
20. Hayashi Y.K., Engwall E., Arikawa-Hirasawa E.et al. Abnormal localization of laminin subunits in muscular dystrophies. J. Neurol Sci. 119:1993;53-64.
21. Haltia M., Leivo I., Somer H.et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol. 41:1997;173-180.
22. Ranta S., Pihko H., Santavuori P., Tahvanainen E., De la Chapelle A. Muscle-eye-brain diseases and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord. 5:1995;221-225.
23. Voit T., Sewry C., Meyer K.et al. Preserved merosin M-chain (or laminin-α2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics. 26:1995;148-155.
24. Kükner Ş., Gürer Y., Saatçi I., Akçören Z., Topaloglu H. Laminin-α2 chain (merosin M) is preserved in the Walker-Warburg syndrome. Neuropediatrics. 27:1996;279-280.
25. Dib C., Fauré S., Fizames C.et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 380:1996;152-154.
26. Toda T., Miyake M., Kobayashi K.et al. Linkage disequilibrium mapping narrows the Fukuyama type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet. 59:1977;1313-1320.
27. Helbling-Leclerc A., Topaloglu H., Tomé F.M.S.et al. Readjusting the localization of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. CR Acad Sci Paris. 318:1995;1245-1252.
28. De Stefano N., Dotti M.T., Villanova M., Scarano G., Federico A. Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system. Brain Dev. 18:1996;323-326.
29. Echenne B., Rivier F., Jellali A.J., Azais M., Mornet D., Pons F. Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. Neuromusc Disord. 7:1997;187-190.
30. Nashef L., Lake B.D., Schapira A.H.V. Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings. J Neurol Neurosurg Psychiatry. 62:1997;279-281.