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Article

Autosomal recessive inheritance of classic Bethlem myopathy.

Neuromuscular disorders : NMD - 1 Dec 2009

Foley A Reghan, Hu Ying, Zou Yaqun, Columbus Alexandra, Shoffner John, Dunn Diane M, Weiss Robert B, Bönnemann Carsten G

Abstract excerpt

Mutations in the collagen VI genes (COL6A1, COL6A2 and COL6A3) result in Ullrich congenital muscular dystrophy (CMD), Bethlem myopathy or phenotypes intermediate between Ullrich CMD and Bethlem myopathy. While Ullrich CMD can be caused by either recessively or dominantly acting mutations, Bethlem myopathy has thus far been described as an exclusively autosomal dominant condition. We report two adult siblings with...

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Share to Collagen Type VI
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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: 19884007
DOI: 10.1016/j.nmd.2009.09.010
PMCID: PMC2787906

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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