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Results 1 - 10 of 19 for Mitochondrial disorder due to a defect in mitochondrial protein synthesis
  1. Dilated cardiomyopathy with ataxia syndrome 
    ... of a novel autosomal recessive dilated cardiomyopathic syndrome due to ... metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  2. MT-ATP6 gene 
    ... variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. ... defects in mitochondrial ATP synthesis. Semin Cell Dev Biol. 2001 Dec;12(6): ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  3. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  4. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Mitochondrial disorders are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. There ...
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  5. Myoclonic epilepsy myopathy sensory ataxia 
    ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  6. MT-TL1 gene 
    ... LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  7. POLG gene 
    ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  8. Primary coenzyme Q10 deficiency 
    ... which refers to problems with coordination and balance due to defects in the part of the brain that is ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  9. Barth syndrome 
    ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8. Citation on PubMed
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  10. Exercising with a Muscle Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Living With ... Neuromuscular Disorders ... Muscular Dystrophy Association ... muscular dystrophy; exercise with a disability; neuromuscular ...
    https://www.mda.org/.../files/MDA_Quest_Excercise_Package_2009.pdf - External Health Links
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