SPORADIC HETEROPLASMIC SINGLE 5.5 KB MITOCHONDRIAL-DNA DELETION ASSOCIATED WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, CHOROIDALDYSTROPHY, AND MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY

Authors
BARRIENTOS A CASADEMONT J GENIS D CARDELLACH F FERNANDEZREAL JM GRAU JM URBANOMARQUEZ A ESTIVILL X NUNES V
Citation
A. Barrientos et al., SPORADIC HETEROPLASMIC SINGLE 5.5 KB MITOCHONDRIAL-DNA DELETION ASSOCIATED WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, CHOROIDALDYSTROPHY, AND MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY, Human mutation, 10(3), 1997, pp. 212-216
Citations number
23
Categorie Soggetti
Genetics & Heredity
Journal title
Human mutation → ACNP
ISSN journal
10597794
Volume
10
Issue
3
Year of publication
1997
Pages
212 - 216
Database
ISI
SICI code
1059-7794(1997)10:3<212:SHS5KM>2.0.ZU;2-R
Abstract
This report describes a patient with cerebellar ataxia, hypogonadotrop ic hypogonadism, and chorioretinal dystrophy, associated with mitochon drial respiratory chain complex I deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle. (C) 1997 Wiley-Liss, Inc.