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

Antoni Barrientos, Jordi Casademont, David Genís, Francesc Cardellach, José Manuel Fernández-Real, José María Grau, Alvaro Urbano-Márquez, Xavier Estivill, Virginia Nunes

Research output: Contribution to journalArticle

14 Scopus citations

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 languageEnglish (US)
Pages (from-to)212-216
Number of pages5
JournalHuman mutation
Volume10
Issue number3
DOIs
StatePublished - Sep 15 1997
Externally publishedYes

Keywords

  • Ataxia
  • Choroidal dystrophy
  • Hypogonadism
  • Single mtDNA deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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