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  • Title: A Caucasian family with the 3271 mutation in mitochondrial DNA.
    Author: Marie SK, Goto Y, Passos-Bueno MR, Zatz M, Carvalho AA, Carvalho M, Levy JA, Palou VB, Campiotto S, Horai S.
    Journal: Biochem Med Metab Biol; 1994 Aug; 52(2):136-9. PubMed ID: 7993661.
    Abstract:
    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 with the 3271 mutation exhibit heterogeneous phenotypic expression as seen in the 3243 mutation.
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