Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.
Tóth
G
G
University of Pécs, Department of Medical Genetics and Child Development, Hungary.
Morava
E
E
Bene
J
J
Selhorst
J J
JJ
Overmars
H
H
Vreken
P
P
Molnár
J
J
Farkas
V
V
Melegh
B
B
D002331:Carnitine / Q000008:administration & dosage / Q000172:deficiency* / Q000627:therapeutic use*; D002524:Cerebellar Ataxia; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases; D009154:Mutation
D004272:DNA, Mitochondrial; D002331:Carnitine