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Article

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.

American journal of human genetics - 2 May 2019

Labelle-Dumais Cassandre, Schuitema Vera, Hayashi Genki, Hoff Kendall, Gong Wenhui, Dao Dang Q, Ullian Erik M, Oishi Peter, Margeta Marta, Gould Douglas B

Abstract excerpt

Collagen type IV alpha 1 and alpha 2 chains form heterotrimers ([α1(IV)]2α2(IV)) that represent a fundamental basement membrane constituent. Dominant COL4A1 and COL4A2 mutations cause a multisystem disorder that is marked by clinical heterogeneity and variable expressivity and that is generally characterized by the presence of cerebrovascular disease with ocular, renal, and muscular involvement. Despite the fact...

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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: 31051113
DOI: 10.1016/j.ajhg.2019.03.007
PMCID: PMC6506795

Genes

COL4A1
COL4A2

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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