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Results 1 - 10 of 18 for Multiple mitochondrial dysfunctions syndrome 3
  1. Multiple mitochondrial dysfunctions syndrome 
    ... Multiple mitochondrial dysfunctions syndrome 2 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3 Multiple mitochondrial dysfunctions syndrome National Organization for Rare ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. BOLA3 gene 
    ... this isoform is not well understood. At least three mutations in the BOLA3 gene have been found to cause multiple mitochondrial dysfunctions syndrome. This severe condition is characterized by impairment of ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  3. 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
  4. NFU1 gene 
    ... understood. Mutations in the NFU1 gene can cause multiple mitochondrial dysfunctions syndrome. This severe condition is characterized by impairment of ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  5. MEGDEL syndrome 
    ... the neurological and hearing problems characteristic of MEGDEL syndrome. It is unclear how SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine, although it is thought to be related to mitochondrial dysfunction. SERAC1 This condition is inherited in an autosomal ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  6. 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
  7. 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
  8. 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
  9. TWNK gene 
    ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK NCBI ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  10. Overview of Barth Syndrome (Barth Syndrome Foundation)  
    Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Barth Syndrome Foundation
    https://barthsyndrome.org/barthsyndrome/whatisbarthsyndrome.html - External Health Links
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