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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

✍ Scribed by Antoni Barrientos; Jordi Casademont; David Genís; Francesc Cardellach; José Manuel Fernández-Real; José María Grau; Alvaro Urbano-Márquez; Xavier Estivill; Virginia Nunes

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 166 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:3<212::aid-humu6>3.0.co;2-k

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✦ Synopsis

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.