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Article

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

Human mutation - 1 Nov 2013

Butterfield Russell J, Foley A Reghan, Dastgir Jahannaz, Asman Stephanie, Dunn Diane M, Zou Yaqun, Hu Ying, Donkervoort Sandra, Flanigan Kevin M, Swoboda Kathryn J, Winder Thomas L, Weiss Robert B, Bönnemann Carsten G

Abstract excerpt

Glycine substitutions in the conserved Gly-X-Y motif in the triple helical (TH) domain of collagen VI are the most commonly identified mutations in the collagen VI myopathies including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate (INT) phenotypes. We describe clinical and genetic characteristics of 97 individuals with glycine substitutions in the TH domain of COL6A1, COL6A2, or COL6A3...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 24038877
DOI: 10.1002/humu.22429
PMCID: PMC4520221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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