A CAUCASIAN FAMILY WITH THE 3271-MUTATION IN MITOCHONDRIAL-DNA

The second most common mutation associated with MELAS (mitochondrial m yopathy, encephalopathy, lactic acidosis, and stroke-hire episodes) in Japan is the 3271 mutation. This mutation was found in a Brazilian fa mily of Portuguese and Italian descent, indicating that this mutation also exists in a race other than Japanese. The propositus had mild cli nical manifestations atypical of MELAS, suggesting that patients with the 3271 mutation exhibit heterogeneous phenotypic expression as seen in the 3243 mutation. (C) 1994 Academic Press, Inc.