Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
This report describes a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, associated with mitochondrial respiratory chain complex I deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle.
Barrientos
A
A
Department of General Internal Medicine, Hospital Clínic i Provincial, University of Barcelona, Spain.
Casademont
J
J
Genís
D
D
Cardellach
F
F
Fernández-Real
J M
JM
Grau
J M
JM
Urbano-Márquez
A
A
Estivill
X
X
Nunes
V
V
D000328:Adult; D002524:Cerebellar Ataxia / Q000201:enzymology / Q000235:genetics*; D015862:Choroid Diseases / Q000201:enzymology / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D004579:Electron Transport / Q000235:genetics; D042967:Electron Transport Complex I; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics*; D008931:Mitochondria, Muscle / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D017384:Sequence Deletion
D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I