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

Glycine substitutions in the conserved Gly-X-Y motif in the triple helical domain of collagen VI are the most commonly identified mutations in the collagen VI myopathies including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We describe clinical and genetic c...

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Bibliografiska uppgifter
I publikationen:Hum Mutat
Huvudupphovsmän: Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520221/
https://ncbi.nlm.nih.gov/pubmed/24038877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22429
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