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Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association

✍ Scribed by Erdem, E.; Kiratli, H.; Erbaş, T.; Varli, K.; Eldem, B.; Akalin, S.; Tan, E.; Topaloglu, H.; Gedikoglu, G.

Book ID
122960316
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
614 KB
Volume
96
Category
Article
ISSN
0303-8467

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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 Genís; Francesc Cardellach; José Manu 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 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.