A previously undescribed leukodystrophy
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Po-Cheng Hung; Huei-Shyong Wang
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Article
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2006
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John Wiley and Sons
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English
β 191 KB
We report two male Taiwanese siblings in whom the TβC 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