Mots-clés
 > MYOBASE > SANTE > médecine > maladie > maladie par appareil > maladie métabolique > maladie métabolique héréditaire > maladie mitochondriale > myopathie mitochondriale
myopathie mitochondriale
Commentaire :
ORPHA 206966
- transmission autosomique dominante ou récessive, hérédité maternelle - Des altérations liées à certaines de ces maladies, situées sur l'ADN mitochondrial (codant 13 sous-unités de la chaîne respiratoire qui comporte plus d'une centaine de sous-unités) ou sur l'ADN nucléaire, ont été identifiés dès la fin des années 1980. Sources : ORPHANET Principales maladies neuromusculaires, Fiche Technique Savoir et Comprendre, AFM , septembre 2012, 6ème édition Avancées médico-scientifiques neuromusculaires, Fiche Technique Savoir et Comprendre, AFM, octobre 2012, 5ème édition Synonyme(s)mitochondrial myopathy ORPHA 206966 |
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Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.
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Neurology, 2018, 1 p.Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
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Journal of medical genetics, 2018, Epub, 7 p.Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.
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Neuromuscular disorders : NMD, 2017, Epub, 12 p.Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.
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Mitochondrion, 2017, Epub, 4 p.Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.
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Journal of the neurological sciences, 2017, 379, p. 137-143Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.
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JIMD reports, 2017, Epub, 7 p.Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.
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Neurologies, 2017, 20, 196, p. 116-123Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency.
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Continuum (Minneapolis, Minn.), 2016, 22, 6, Muscle and Neuromuscular Junction Disorders, p. 1829-1851Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients
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EMBO Molecular Medicine, 2016, Epub, 14 p.Analysis of lipid profile in lipid storage myopathy
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Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2016, 1029-1030, p. 157-168Home-based aerobic exercise training improves skeletal muscle oxidative metabolism in patients with metabolic myopathies
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Journal of applied physiology (Bethesda, Md. : 1985), 2016, Epub, 33 p.
