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 - 10 of 14 for Multiple mitochondrial dysfunctions syndrome 2
  1. Multiple mitochondrial dysfunctions syndrome 
    ... Multiple mitochondrial dysfunctions syndrome 1 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3 ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. BOLA3 gene 
    ... Prokisch H. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis. 2013 Jan;36( ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  3. NFU1 gene 
    ... a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am ... dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20; ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  4. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  5. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a severe condition that affects multiple body systems. It typically leads to brain dysfunction combined with muscle weakness (encephalomyopathy) and a problem ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  6. OPA1 gene 
    ... that begin by early childhood. Individuals with Behr syndrome develop optic ... due to poor mitochondrial function. It is unclear why OPA1 gene mutations ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  7. TWNK gene 
    ... Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. MEGDEL syndrome 
    ... Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Citation on PubMed
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  9. FH gene 
    ... fumarase deficiency. Mol Genet Metab. 2006 Jun;88(2):146-52. doi: 10.1016/j.ymgme.2006.01.007. Epub 2006 Feb 28. Citation on PubMed King A, Selak MA, Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug 7;25(34): ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  10. Cytochrome c oxidase deficiency 
    ... oxidase deficiency are involved in energy production in mitochondria through a ... of multiple protein parts (subunits). Many other proteins are involved ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
previous · 1 · 2 · next