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

Antonio 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 journal › Article

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
StatePublished - Sep 15 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, Antonio; Casademont, Jordi; Genís, David; Cardellach, Francesc; Fernández-Real, José Manuel; Grau, José María; Urbano-Márquez, Alvaro; Estivill, Xavier; Nunes, Virginia.

In: Human Mutation, Vol. 10, No. 3, 15.09.1997, p. 212-216.

Research output: Contribution to journal › Article

Barrientos, A, Casademont, J, Genís, D, Cardellach, F, Fernández-Real, JM, Grau, JM, Urbano-Márquez, A, Estivill, X & Nunes, V 1997, 'Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency', Human Mutation, vol. 10, no. 3, pp. 212-216. https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K
Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM et al. Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. Human Mutation. 1997 Sep 15;10(3):212-216. https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K
Barrientos, Antonio ; Casademont, Jordi ; Genís, David ; Cardellach, Francesc ; Fernández-Real, José Manuel ; Grau, José María ; Urbano-Márquez, Alvaro ; Estivill, Xavier ; 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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