title: Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.
authors.affiliation: First Department of Medicine, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu 431-3192, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shirakawa
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: S
authors.initials: S
authors.lastname: Kono
authors.forename: T
authors.initials: T
authors.lastname: Uchiyama
authors.forename: T
authors.initials: T
authors.lastname: Ohashi
authors.forename: H
authors.initials: H
authors.lastname: Miyajima
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D004576:Electromyography; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007866:Leg; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation; D035781:Siblings; D014059:Tongue; D055815:Young Adult
chemical_list: C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors