Výsledky vyhledávání - "Sumaria Kanwal"

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Autor: Byung Ok Choi, Sumaria Kanwal, Sang Beom Kim, Heasoo Koo, Jeong Hyun Yoo, Jong-Won Kim, Song Ja Kim, Sung Hee Kang, Ki Wha Chung, Young Chul Choi, Kyoung Gyu Choi, Stephan Züchner, Young Se Hyun, Kee Duk Park, Sun Wha Park

Publikováno v: Human Mutation. 32:669-677

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, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::990050e14fd6bdeea87b9d955236f8c7
https://doi.org/10.1002/humu.21488

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