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Volumn 25, Issue 1, 2010, Pages 180-184

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459a mutation in a korean family: A case report

Author keywords

Basal ganglia; Dystonia; Mitochondrial diseases; Necrosis; Nucleotide position 14459

Indexed keywords

MT ND6 PROTEIN, HUMAN; MT-ND6 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

EID: 77949330240     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.1.180     Document Type: Article
Times cited : (21)

References (13)
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  • 2
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    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994; 91: 6206-10.
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    • Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
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    • Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome
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    • Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.