Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.
Department of Biological Science, Kongju National University, 182 sinkwan-dong, Gongju, Chungnam 314-701, Republic of Korea. bochoi@skku.edu.
Ji Hoon
JH
Park
Bo Ram
BR
Yoon
Hye Jin
HJ
Kim
Phil Hyu
PH
Lee
Byung-Ok
BO
Choi
Ki Wha
KW
Chung
D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
D004272:DNA, Mitochondrial