Marie S.K.N., Goto Y., Passosbueno M.R., Zatz M., Carvalho A.A.S., Carvalho M., Levy J.A., Palou V.B., Campiotto S., Horai S., Nonaka I.
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A Caucasian Family with the 3271 Mutation in Mitochondrial DNA
The second most common mutation associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-hire episodes) in Japan is the 3271 mutation. This mutation was found in a Brazilian family of Portuguese and Italian descent, indicating that this mutation also exists in a race other than Japanese. The propositus had mild clinical manifestations atypical of MELAS, suggesting that patients with the 3271 mutation exhibit heterogeneous phenotypic expression as seen in the 3243 mutation.
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