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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.
Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V. Barrientos A, et al. Hum Mutat. 1997;10(3):212-6. doi: 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K. Hum Mutat. 1997. PMID: 9298821
397 results