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Clinical and Genetic Features in a MELAS Child With a 3271T>C Mutation

โœ Scribed by Hsiao-Feng Chou; Wen-Chen Liang; Qing Zhang; Yu-ichi Goto; Yuh-Jyh Jong


Book ID
116825258
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
289 KB
Volume
38
Category
Article
ISSN
0887-8994

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Clinical, physiological, and histologica
โœ M.A. Tarnopolsky; J. Maguire; T. Myint; D. Applegarth; B.H. Robinson ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 912 KB

The majority of patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) have an Aโ†’G mutation at nucleotide 3243 in mitochondrial transfer (t)RNA. To date there have only been 10 reported cases of MELAS syndrome in patients with a Tโ†’C mutation a