KEGG   VARIANT: 79784v1
Entry
79784v1                      Variant                               
Name
MYH14 mutation
Type
Loss of function
Gene
MYH14  myosin heavy chain 14 [KO:K10352]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608568
Network
nt06546  IgSF CAM signaling
Disease
H00604  Deafness, autosomal dominant
H02817  Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Reference
  Authors
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A
  Title
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
  Journal
Am J Hum Genet 74:770-6 (2004)
DOI:10.1086/383285
Reference
  Authors
Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Zuchner S, Chung KW
  Title
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
  Journal
Hum Mutat 32:669-77 (2011)
DOI:10.1002/humu.21488
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