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J. bras. med ; 95(3): 22-25, Set. 2008. tab, ilus
Article Dans Portugais | LILACS | ID: lil-618686

Résumé

A síndrome de Kearns-Sayre é uma patologia rara, que acarreta piora da qualidade de vida; caracteriza-se por oftalmoplegia externa progressiva, fraqueza muscular e distúrbios na condução cardíaca. A entidade integra um grupo de desordens do metabolismo mitocondrial, denominadas miopatias mitocondriais ou citopatias mitocondriais.


Kearns-Sayres syndrome is a rare pathology which leads to a worse quality of life of the individual; it is characterized by progressive external ophthalmoplegia, muscular weakness, and cardiac conduction defects. The disease belongs to a group of mitochondrial metabolic disorders, named mitochondrial myopathies of mitochondrial cytopathies.


Sujets)
Humains , Femelle , Cardiomyopathies/étiologie , ADN mitochondrial/métabolisme , Faiblesse musculaire/étiologie , Myopathies mitochondriales/diagnostic , Myopathies mitochondriales/thérapie , Ophtalmoplégie externe progressive/étiologie , Syndrome de Kearns-Sayre/complications , Syndrome de Kearns-Sayre/diagnostic , Syndrome de Kearns-Sayre/thérapie , Thérapie génétique , Antioxydants/usage thérapeutique , Qualité de vie
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