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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, immunohistochemi...

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Source

Identifiers

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

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9631397-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 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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