Article
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Human mutation - 1 Jun 2011
Choi Byung-Ok, Kang Sung Hee, Hyun Young Se, Kanwal Sumaria, Park Sun Wha, Koo Heasoo, Kim Sang-Beom, Choi Young-Chul, Yoo Jeong Hyun, Kim Jong-Won, Park Kee Duk, Choi Kyoung-Gyu, Kim Song Ja, Züchner Stephan, Chung Ki Wha
Abstract excerpt
Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density single nucleotide polymorphism (SNP)-based linkage study mapped the...
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