Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Hum Mutat. 1997;10(3):212-6. doi: 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cerebellar Ataxia / enzymology
  • Cerebellar Ataxia / genetics*
  • Choroid Diseases / enzymology
  • Choroid Diseases / genetics*
  • DNA, Mitochondrial / genetics*
  • Electron Transport / genetics
  • Electron Transport Complex I
  • Female
  • Humans
  • Hypogonadism / enzymology
  • Hypogonadism / genetics*
  • Mitochondria, Muscle / genetics
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • NADH, NADPH Oxidoreductases / deficiency*
  • NADH, NADPH Oxidoreductases / genetics
  • Pedigree
  • Sequence Deletion*

Substances

  • DNA, Mitochondrial
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I