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MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA
Author(s) -
Taylor R. W.,
Chinnery P. F.,
Haldane F.,
Morris A. A. M.,
Bindoff L. A.,
Turnbull D. M.,
Wilson J.
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400318
Subject(s) - heteroplasmy , mitochondrial myopathy , mitochondrial dna , lactic acidosis , melas syndrome , valine , biology , genetics , mutation , gene , chronic progressive external ophthalmoplegia , myopathy , phenotype , microbiology and biotechnology , biochemistry , amino acid
Abstract We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analyis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.