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Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

โœ Scribed by C. Dionisi-Vici; S. Seneca; M. Zeviani; G. Fariello; M. Rimoldi; E. Bertini; L. De Meirleir


Book ID
110224404
Publisher
Springer
Year
1998
Tongue
English
Weight
170 KB
Volume
21
Category
Article
ISSN
0141-8955

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A previously undescribed leukodystrophy
โœ Po-Cheng Hung; Huei-Shyong Wang ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 191 KB

We report two male Taiwanese siblings in whom the Tโ†’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