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Familial cardiomyopathy due to mitochondrial respiratory chain disorder: Complexes I and IV associated deficiency

✍ Scribed by N.B. Romero; C. Marsac; M. Patumeau-Jouas; H. Ogier; S. Magnier; R. Chirio; M. Fardeau


Book ID
115982685
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
101 KB
Volume
23
Category
Article
ISSN
0022-2828

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✍ J. Bleistein; S. Zierz 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 896 KB

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Sporadic heteroplasmic single 5.5 Kb mit
✍ 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.