Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 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. Myoclonic epilepsy myopathy sensory ataxia 
    ... which refers to problems with coordination and balance due to defects in the part of the brain that is ... 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
  4. 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
  5. 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
  6. 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
  7. 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