The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia

Abstract We identified a double mutation in a patient with chronic progressive external ophthalmoplegia, located in the tRNAAla (m.5628T>C) and tRNALys (m.8348A>G) genes. Both mutations were previously described separately and considered pathogenic, however the same mutations were also reporte...

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Bibliographic Details
Published in:	Journal of the neurological sciences Vol. 320; no. 1; pp. 131 - 135
Main Authors:	Gamba, Juliana, Kiyomoto, Beatriz Hitomi, de Oliveira, Acary Souza Bulle, Gabbai, Alberto Alain, Schmidt, Beny, Tengan, Célia Harumi
Format:	Journal Article
Language:	English
Published:	Amsterdam Elsevier B.V 15-09-2012 Elsevier
Subjects:	Adult Biological and medical sciences CPEO Electron Transport Complex IV - metabolism Female Gene polymorphism Humans Medical sciences Mitochondria Mitochondria - genetics Mitochondria - metabolism Mitochondrial diseases mtDNA Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Muscle Fibers, Skeletal - metabolism Mutation Neurology Neuromodulation Ophthalmoplegia Ophthalmoplegia, Chronic Progressive External - genetics Ophthalmoplegia, Chronic Progressive External - metabolism Pathogenicity Point Mutation - genetics Polymorphism RNA, Transfer, Ala - genetics RNA, Transfer, Lys - genetics Skeletal muscle tRNA Mitochondria tRNA mtDNA CPEO Mitochondrial diseases Mutation Polymorphism Human Nervous system diseases Metabolic diseases Enzymopathy Mitochondrial disorder Genetic disease Eye disease Chronic Ophthalmoplegia Oculomotor syndrome
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