A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14

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 d...

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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103632/
https://ncbi.nlm.nih.gov/pubmed/21480433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21488
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