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

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

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	212-216
Number of pages	5
Journal	Human mutation
Volume	10
Issue number	3
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K
State	Published - 1997
Externally published	Yes

Keywords

Ataxia
Choroidal dystrophy
Hypogonadism
Single mtDNA deletion

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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

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Barrientos, A., Casademont, J., Genís, D., Cardellach, F., Fernández-Real, J. M., Grau, J. M., 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, 10(3), 212-216. https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K

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; Nunes, Virginia.

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

Research output: Contribution to journal › Article › peer-review

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;10(3):212-216. https://doi.org/10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K

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

Abstract

Keywords

ASJC Scopus subject areas

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