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Article

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.

Neuromuscular disorders : NMD - 1 May 1997

Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F

Abstract excerpt

Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both laminin-alpha 2 chain expression in trophoblast using immunocytochemistry and linkage analysis to the LAMA2 locus. In four families there was good agreement between the immunocytochemistry and linkage analysis results: in one case the trophoblast was negative for LAMA2 expression and...

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Source

Identifiers

PMID: 9185181
DOI: 10.1016/s0960-8966(97)00448-3

Genes

LAMA2

Provenance

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.

Related research

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Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.PMID 9185181Read ↗

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Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.Semantic proximity Read ↗

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.Semantic proximity Read ↗

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.Semantic proximity Read ↗

Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathySemantic proximity Read ↗

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.Semantic proximity Read ↗

Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?Semantic proximity Read ↗

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