ISSN:
1546-1718
Quelle:
Nature Archives 1869 - 2009
Thema:
Biologie
,
Medizin
Notizen:
[Auszug] Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a ...
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1038/ng1657
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