Parcourir par sujet "MYOPATHY"
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Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
(2000)Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; ... -
No adverse effects of statins on muscle function and health-related parameters in the elderly: An exercise study
(2013)The aim of the present study was to investigate the effects of a repeated bout of eccentric exercise on health-related parameters and muscle performance on subjects undergoing atorvastatin therapy. Twenty-eight elderly men ... -
A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNA(Leu(CUN)) A12308G and tRNA(Thr) C15946T mutations
(2008)We describe a novel Mutation in human mitochondrial NADH dehydrogenase 1 gene (ND1), a G to A transition at nucleotide position 3337,which is co-segregated with two known mutations in tRNA(Leu(CUN)) A12308G and tRNA(Thr) ...