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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
Author(s) -
Barrientos Antoni,
Casademont Jordi,
Genís David,
Cardellach Francesc,
FernándezReal José Manuel,
Grau José María,
UrbanoMárquez Alvaro,
Estivill Xavier,
Nunes Virginia
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:3<212::aid-humu6>3.0.co;2-k
Subject(s) - heteroplasmy , mitochondrial dna , biology , mitochondrial respiratory chain , mitochondrial myopathy , cerebellar ataxia , genetics , respiratory chain , kearns–sayre syndrome , mitochondrial disease , ataxia , mitochondrial encephalomyopathy , hypogonadotropic hypogonadism , mitochondrion , endocrinology , neuroscience , gene , hormone
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. Hum Mutat 10:212–216, 1997. © 1997 Wiley‐Liss, Inc.