Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.
Shirakawa
K
K
First Department of Medicine, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu 431-3192, Japan.
Suzuki
H
H
Ito
M
M
Kono
S
S
Uchiyama
T
T
Ohashi
T
T
Miyajima
H
H
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
C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors