Article
A Caucasian family with the 3271 mutation in mitochondrial DNA.
Biochemical medicine and metabolic biology - 1 Aug 1994
Marie S K, Goto Y, Passos-Bueno M R, Zatz M, Carvalho A A, Carvalho M, Levy J A, Palou V B, Campiotto S, Horai S
Abstract excerpt
The second most common mutation associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like 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...
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