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

Human Mutation

Volumn 32, Issue 6, 2011, Pages 669-677

  Choi, Byung Ok ^a   Hee Kang, Sung ^b   Hyun, Young Se ^b   Kanwal, Sumaria ^b   Park, Sun Wha ^b   Koo, Heasoo ^a   Kim, Sang Beom ^c   Choi, Young Chul ^d   Yoo, Jeong Hyun ^a   Kim, Jong Won ^e   Park, Kee Duk ^a   Choi, Kyoung Gyu ^a   Ja Kim, Song ^b   Züchner, Stephan ^f   Chung, Ki Wha ^b  

^a Ewha Womans University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

^c Kyung Hee University Hospital   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

^e Sungkyunkwan University School of Medicine   (South Korea)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Genomewide scan; Hearing loss; Hoarseness; MYH14; Myopathy; Neuropathy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRODIAGNOSIS; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE LOCUS; HEARING LOSS; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HOARSENESS; HUMAN; HUMAN TISSUE; KOREA; MALE; MYH14 GENE; MYOPATHY; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HAPLOTYPES; HEARING LOSS; HOARSENESS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; MYOSIN HEAVY CHAINS; MYOSIN TYPE II; PERIPHERAL NERVOUS SYSTEM DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA;

EID: 79957603665     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21488     Document Type: Article

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