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Article

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Journal of medical genetics - 1 Oct 2001

Jones K J, Morgan G, Johnston H, Tobias V, Ouvrier R A, Wilkinson I, North K N

Abstract excerpt

Initial reports of patients with laminin alpha2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging. We report a series of five patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11584042
DOI: 10.1136/jmg.38.10.649
PMCID: PMC1734735

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.PMID 11584042Read ↗

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