Article
Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.
Neurogenetics - 1 Oct 2010
Kim Hyun Sook, Chung Ki Wha, Kang Sung Hee, Choi Sung Kyung, Cho Sun Young, Koo Heasoo, Kim Sang-Beom, Choi Byung-Ok
Abstract excerpt
Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot-Marie-Tooth disease (CMTX1) are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. The underlying causes of the DM1 and CMTX1 are mutations in the DMPK and GJB1 gene, respectively. A patient with both DM1 and CMTX1 inherited these from his father and mother,...
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