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Results 1 - 10 of 15 for Multiple mitochondrial dysfunctions syndrome 1
  1. Multiple mitochondrial dysfunctions syndrome 
    ... MMDS Multiple mitochondrial dysfunction syndrome Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 ...
    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(1):55-62. doi: 10.1007/s10545-012-9489- ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  3. NFU1 gene 
    ... too high.The other version of the NFU-1 protein is found in the fluid-filled space inside the cell ... dysfunctions syndrome. This severe condition is characterized by impairment of ...
    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. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    FBXL4-related encephalomyopathic ... encephalomyopathic mtDNA depletion syndrome have weak muscle tone (hypotonia) and ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  7. 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
  8. Mitochondrial DNA 
    ... This Health Condition Most people with Kearns-Sayre syndrome have a single, large deletion of mitochondrial DNA. The deletions range from 1,000 to 10,000 nucleotides, and the most ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  9. TWNK gene 
    ... 90058. Erratum In: Nat Genet 2001 Sep;29(1):100. Citation on PubMed Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  10. 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
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