Abstract
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.
Original language | English (US) |
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Pages (from-to) | 212-216 |
Number of pages | 5 |
Journal | Human mutation |
Volume | 10 |
Issue number | 3 |
DOIs | |
State | Published - Sep 15 1997 |
Externally published | Yes |
Keywords
- Ataxia
- Choroidal dystrophy
- Hypogonadism
- Single mtDNA deletion
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)