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Article

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

American journal of human genetics - 1 Jun 2002

Demir Ercan, Sabatelli Patrizia, Allamand Valérie, Ferreiro Ana, Moghadaszadeh Behzad, Makrelouf Mohamed, Topaloglu Haluk, Echenne Bernard, Merlini Luciano, Guicheney Pascale

Abstract excerpt

Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound heterozygous mutations of COL6A2 on chromosome 21q22 have recently been shown to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11992252
DOI: 10.1086/340608
PMCID: PMC419991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11992252-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.PMID 11992252Read ↗

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