title: CHCHD10 is not a frequent causative gene in Chinese ALS patients.
abstract: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the death of motor neurons. Recently, mutations in CHCHD10 have been reported to cause ALS in Western populations. In the present study, direct DNA sequencing has been performed on CHCHD10 in a cohort of 294 ALS patients of Chinese Han origin. No mutations were identified in CHCHD10 in ALS cases of Chinese ancestry. We propose CHCHD10 might not be a frequent causal gene among Chinese with ALS.
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .|c McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , China.
authors.forename: Xiao Ling
authors.initials: XL
authors.lastname: Li
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .|b Neuroscience Center, CAMS Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , and.|c McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , China.
authors.forename: Shi
authors.initials: S
authors.lastname: Shu
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .
authors.forename: Xiao Guang
authors.initials: XG
authors.lastname: Li
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .|b Neuroscience Center, CAMS Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , and.
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .|c McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , China.
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .
authors.forename: Bo
authors.initials: B
authors.lastname: Cui
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .
authors.forename: Ming Sheng
authors.initials: MS
authors.lastname: Liu
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .
authors.forename: Bin
authors.initials: B
authors.lastname: Peng
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .|b Neuroscience Center, CAMS Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , and.
authors.forename: Li Ying
authors.initials: LY
authors.lastname: Cui
authors.affiliation: a Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College , Beijing .|b Neuroscience Center, CAMS Hospital , Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , and.|c McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , China.
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: C554426:CHCHD10 protein, human; D024101:Mitochondrial Proteins
keywords: Amyotrophic lateral sclerosis (ALS); CHCHD10; mitochondria pathology; mutation screening