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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Veröffentlicht in:	Journal of the neurological sciences 2012-09, Vol.320 (1), p.131-135
Hauptverfasser:	Gamba, Juliana, Kiyomoto, Beatriz Hitomi, de Oliveira, Acary Souza Bulle, Gabbai, Alberto Alain, Schmidt, Beny, Tengan, Célia Harumi
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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