Results 11 to 20 of about 444,467 (232)
Mitochondrial Myopathy with DNA Deletions
Pediatric Neurology Briefs, 1992 Deletions of mitochondrial DNA (mtDNA) are reported in 19 of 56 patients with mitochondrial myopathy examined in the Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN.
J Gordon Millichap
doaj +2 more sources
Mitochondrial myopathy presenting as fibromyalgia: a case report [PDF]
Journal of Medical Case Reports, 2012 Introduction To the best of our knowledge, we describe for the first time the case of a woman who met the diagnostic criteria for fibromyalgia, did not respond to therapy for that disorder, and was subsequently diagnosed by biochemical and genetic ...
Abdullah Mishal +3 more
doaj +3 more sources
Mitochondrial Myopathy and Cardiomyopathy
Pediatric Neurology Briefs, 1989 Two siblings with infantile lactic acidosis and mitochondrial myopathy are reported from the Department of Pediatrics, Goteborg University; Ostra Hospital; Goteborg, Sweden.
J Gordon Millichap
doaj +2 more sources
Mitochondrial myopathy with respiratory muscle involvement: a case report
Arquivos de Neuro-Psiquiatria, 1983 A case of a 10-year-old patient with a benign congenital myopathy, suddenly aggravated because of an accentuated deficit in respiratory muscles is reported.
J. A. Levy +4 more
doaj +2 more sources
Myopathy reversion in mice after restauration of mitochondrial complex I [PDF]
EMBO Molecular Medicine, 2020 Myopathies are common manifestations of mitochondrial diseases. To investigate whether gene replacement can be used as an effective strategy to treat or cure mitochondrial myopathies, we have generated a complex I conditional knockout mouse model lacking
Claudia V Pereira +5 more
doaj +2 more sources
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene [PDF]
Case Reports in Neurological Medicine, 2018 Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are
C. Simoncini +5 more
doaj +2 more sources
Mitochondrial myopathies [PDF]
British Medical Bulletin, 1989 The mitochondrial myopathies give rise to a diverse group of clinical syndromes, variably involving skeletal muscle and the central nervous system, with onset in childhood or adult life. In vitro studies of mitochondrial metabolism have identified a variety of functional defects of the respiratory chain, predominantly affecting complex I or complex III
A E, Harding, I J, Holt
+7 more sources
Remarks on Mitochondrial Myopathies
International Journal of Molecular Sciences, 2022 Mitochondrial myopathies represent a heterogeneous group of diseases caused mainly by genetic mutations to proteins that are related to mitochondrial oxidative metabolism. Meanwhile, a similar etiopathogenetic mechanism (i.e., a deranged oxidative phosphorylation and a dramatic reduction of ATP synthesis) reveals that the evolution of these myopathies ...
Patrizia Bottoni +2 more
openaire +2 more sources
Poultry Science, 2023 : The incidence of wooden breast (WB) meat of commercial broiler chicken has been increasing in recent years. Histological examination found that the occurrence of WB myopathy was accompanied by the pectoralis major (PM) muscle damage.
Xinrui Zhang +4 more
doaj +1 more source
Chronic progressive external ophthalmoplegia vs. myasthenia gravis – case report and review of literature [PDF]
Romanian Journal of Neurology, 2020 The mitochondrial myopathy consists of a heterogeneous group of conditions characterized by primary disfunction of mitochondrial respiratory chain causing muscle disease.
Alexandru Dima +2 more
doaj +1 more source