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Volumn 243, Issue 1-2, 2006, Pages 31-34

Leber's hereditary optic neuropathy with dystonia in a Japanese family

Author keywords

Dystonia; Hereditary; Japanese family; Leber's disease; Mitochondrial disease; Mitochondrial DNA mutation; Optic neuropathy; Striatal degeneration

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN SUBUNIT; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

EID: 33645048710     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2005.11.003     Document Type: Article
Times cited : (21)

References (14)
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    • A.S. Jun, I.A. Trounce, M.D. Brown, J.M. Shoffner, and D.C. Wallace Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia Mol Cell Biol 16 3 1996 (Mar) 771 777
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    • D.D. De Vries, L.N. Went, G.W. Bruyn, H.R. Scholte, R.M. Hofstra, and P.A. Bolhuis Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia Am J Hum Genet 58 4 1996 (Apr) 703 711
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.