Autosomal Recessive Inheritance of Classic Bethlem Myopathy

Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) result in Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) or phenotypes intermediate between UCMD and BM. While UCMD can be caused by either recessively or dominantly acting mutations, BM has thus far been described...

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Détails bibliographiques
Auteurs principaux: Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Columbus, Alexandra, Shoffner, John, Dunn, Diane M., Weiss, Robert B., Bönnemann, Carsten G.
Format: Artigo
Langue:Inglês
Publié: 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787906/
https://ncbi.nlm.nih.gov/pubmed/19884007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2009.09.010
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