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-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.
Marie
S K
SK
Department of Neurology, Faculty of Medicine, University of Sao Paulo, Brazil.
Goto
Y
Y
Passos-Bueno
M R
MR
Zatz
M
M
Carvalho
A A
AA
Carvalho
M
M
Levy
J A
JA
Palou
V B
VB
Campiotto
S
S
Horai
S
S
D000140:Acidosis, Lactic / Q000235:genetics*; D000328:Adult; D001938:Brazil; D002561:Cerebrovascular Disorders / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D044465:White People
D004272:DNA, Mitochondrial