Article
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Human mutation - 1 May 2016
Hong Young Bin, Kang Junghee, Kim Ji Hyun, Lee Jinho, Kwak Geon, Hyun Young Se, Nam Soo Hyun, Hong Hyun Dae, Choi Yu-Ri, Jung Sung-Chul, Koo Heasoo, Lee Ji Eun, Choi Byung-Ok, Chung Ki Wha
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. We examined a Korean family in which two individuals had an autosomal-dominant axonal CMT with early-onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense mutation (p.Y223H) in the diacylglycerol...
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