Article
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
American journal of human genetics - 1 Sept 1992
Lertrit P, Noer A S, Jean-Francois M J, Kapsa R, Dennett X, Thyagarajan D, Lethlean K, Byrne E, Marzuki S
Abstract excerpt
The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A----G base substitution at nt 3243 of the mtDNA, in the DHU loop of tRNA(Leu), was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA of one...
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