title: Compound Heterozygote Mutation ofC12orf65Causes Distal Motor Neuropathy and Optic Atrophy.
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xiao-Jing
authors.initials: XJ
authors.lastname: Fang
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: He
authors.initials: H
authors.lastname: Lyu
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Zhao-Xia
authors.initials: ZX
authors.lastname: Wang
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Wang
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
mesh_terms: D002648:Child; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics*; D010454:Peptide Termination Factors / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D010454:Peptide Termination Factors; C551030:MTRFR protein, human