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 P. Estivill, Virginia Nunes

Research output: Contribution to journalArticle

14 Citations (Scopus)

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
Pages (from-to)212-216
Number of pages5
JournalHuman Mutation
Volume10
Issue number3
DOIs
Publication statusPublished - 1997
Externally publishedYes

Fingerprint

Electron Transport Complex I
Electron Transport
Mitochondrial DNA
Skeletal Muscle
Cerebellar Ataxia and Hypogonadotropic Hypogonadism

Keywords

  • Ataxia
  • Choroidal dystrophy
  • Hypogonadism
  • Single mtDNA deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. / Barrientos, Antoni; Casademont, Jordi; Genís, David; Cardellach, Francesc; Fernández-Real, José Manuel; Grau, José María; Urbano-Márquez, Alvaro; Estivill, Xavier P.; Nunes, Virginia.

In: Human Mutation, Vol. 10, No. 3, 1997, p. 212-216.

Research output: Contribution to journalArticle

Barrientos, Antoni ; Casademont, Jordi ; Genís, David ; Cardellach, Francesc ; Fernández-Real, José Manuel ; Grau, José María ; Urbano-Márquez, Alvaro ; Estivill, Xavier P. ; Nunes, Virginia. / Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. In: Human Mutation. 1997 ; Vol. 10, No. 3. pp. 212-216.
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