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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

✍ Scribed by Swalwell, Helen; Kirby, Denise M; Blakely, Emma L; Mitchell, Anna; Salemi, Renato; Sugiana, Canny; Compton, Alison G; Tucker, Elena J; Ke, Bi-Xia; Lamont, Phillipa J

Book ID
109849458
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
345 KB
Volume
19
Category
Article
ISSN
1018-4813

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Sporadic heteroplasmic single 5.5 Kb mit
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 GenΓ­s; Francesc Cardellach; JosΓ© Manu πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 166 KB

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.