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Article

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

Neuromuscular disorders : NMD - 1 May 1998

Topaloğlu H, Talim B, Vignier N, Helbling-Leclerc A H, Yetük M, Afşin I E, Cağlar M, Kale G, Guicheney P

Abstract excerpt

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a...

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Identifiers

PMID: 9631397
DOI: 10.1016/s0960-8966(98)00013-3

Genes

LAMA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.PMID 9631397Read ↗

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Merosin-deficient congenital muscular dystrophy and cortical dysplasia.Semantic proximity Read ↗

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.Semantic proximity Read ↗

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