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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Columbus, Alexandra, Shoffner, John, Dunn, Diane M., Weiss, Robert B., Bönnemann, Carsten G.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2009
Gaiak:
Article
Sarrera elektronikoa: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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