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A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

✍ Scribed by Motohiro Akagi; Koji Inui; Hiroko Tsukamoto; Norio Sakai; Takashi Muramatsu; Minoru Yamada; Kouzi Matsuzaki; Yu-ichi Goto; Ikuya Nonaka; Shintaro Okada


Book ID
117669455
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
125 KB
Volume
12
Category
Article
ISSN
0960-8966

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We report two male Taiwanese siblings in whom the T→C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffus