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Results 1 - 10 of 14 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. 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
  4. 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
  5. 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
  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. 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. 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
  9. Mitochondrial DNA 
    ... cause the recurrent episodes characteristic of cyclic vomiting syndrome. More About This Health Condition Mutations in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  10. FBXL4 gene 
    ... found to cause FBXL4-related encephalomyopathic mtDNA depletion syndrome. This condition affects multiple body systems and is often fatal in early childhood. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).Many of the ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
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