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

University of Barcelona
Cancer Research Institute
Hospital Josep Truteta
University of Girona

Research output: Contribution to journal › Scientific article › peer-review

18 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 language	English
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
Publication status	Published - 1997
Externally published	Yes

Keywords

Ataxia
Choroidal dystrophy
Hypogonadism
Single mtDNA deletion

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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

@article{74c6c8a9dd35468fa6471a0b10279e8f,

title = "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 = "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.",

keywords = "Ataxia, Choroidal dystrophy, Hypogonadism, Single mtDNA deletion",

author = "Antoni Barrientos and Jordi Casademont and David Gen{\'i}s and Francesc Cardellach and Fern{\'a}ndez-Real, \{Jos{\'e} Manuel\} and Grau, \{Jos{\'e} Mar{\'i}a\} and Alvaro Urbano-M{\'a}rquez and Xavier Estivill and Virginia Nunes",

year = "1997",

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

language = "English",

volume = "10",

pages = "212--216",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons",

number = "3",

}

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

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

Research output: Contribution to journal › Scientific article › peer-review

TY - JOUR

T1 - Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

AU - Barrientos, Antoni

AU - Casademont, Jordi

AU - Genís, David

AU - Cardellach, Francesc

AU - Fernández-Real, José Manuel

AU - Grau, José María

AU - Urbano-Márquez, Alvaro

AU - Estivill, Xavier

AU - Nunes, Virginia

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

KW - Ataxia

KW - Choroidal dystrophy

KW - Hypogonadism

KW - Single mtDNA deletion

UR - https://www.scopus.com/pages/publications/0030770750

U2 - 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K

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

M3 - Scientific article

C2 - 9298821

AN - SCOPUS:0030770750

SN - 1059-7794

VL - 10

SP - 212

EP - 216

JO - Human Mutation

JF - Human Mutation

IS - 3

ER -

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. 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

Abstract

Keywords

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