Premium
Mitochondrial myopathy with progressive decrease in mitochondrial tRNA Leu(UUR) mutant genomes
Author(s) -
Kawakami Yasuhiko,
Sakuta Ryoichi,
Hashimoto Kiyoshi,
Fujino Osamu,
Fujita Takehisa,
Hida Masatoshi,
Horai Satoshi,
Goto Yuichi,
aka Ikuya
Publication year - 1994
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.410350322
Subject(s) - mitochondrial myopathy , mitochondrial dna , melas syndrome , lactic acidosis , mitochondrial encephalomyopathy , biology , encephalopathy , myopathy , cytochrome c oxidase , chronic progressive external ophthalmoplegia , mitochondrion , mitochondrial encephalomyopathies , mutation , population , kearns–sayre syndrome , mitochondrial disease , genetics , medicine , endocrinology , gene , environmental health
A female patient with mitochondrial myopathy had a mitochondrial DNA mutation at nucleotide pair 3243, commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), but unlike MELAS patients, she had no central nervous system symptoms. Muscle weakness, which was most severe when she was 7 years old, improved gradually with age. Comparison of two muscle biopsies obtained at an interval of 12.5 years (7 and 20 years of age, respectively), revealed that the number of ragged‐red fibers was markedly decreased and histochemical cytochrome c oxidase activity increased in parallel with the decrease in population of mutant genomes.