Heteroplasmic mitochondrial DNA 3310 mutation in NADH dehydrogenase subunit 1 associated with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation in a single patient.
Hattori
Yukiko
Y
Nakajima
Kazuo
K
Eizawa
Takayuki
T
Ehara
Takashi
T
Koyama
Masamichi
M
Hirai
Tetsuya
T
Fukuda
Youji
Y
Kinoshita
Moritoshi
M
D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D042967:Electron Transport Complex I; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D017354:Point Mutation
D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I