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Article

A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination.

Journal of cell science - 15 May 2008

Patton Bruce L, Wang Bing, Tarumi Yukie S, Seburn Kevin L, Burgess Robert W

Abstract excerpt

Mutations in the gene encoding the basal lamina (BL) component laminin alpha2 (LAMA2) cause merosin-deficient congenital muscular dystrophy 1A (MDC1A), a complex disorder that includes hypomyelination and myodegeneration. In dystrophia muscularis (dy) mice bearing Lama2 mutations, myofibers and Schwann cells fail to assemble stable BLs, which are thought to be crucial for myofiber survival and Schwann cell...

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Share to Basement Membrane
Share to Laminin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophy, Animal

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Source

Identifiers

PMID: 18430779
DOI: 10.1242/jcs.015354

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination.PMID 18430779Read ↗

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