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 - 6 of 6 for Multiple mitochondrial dysfunctions syndrome 4
  1. Multiple mitochondrial dysfunctions syndrome 
    ... MMDS1 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 MULTIPLE MITOCHONDRIAL ... and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. 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
  3. 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
  4. Hereditary paraganglioma-pheochromocytoma 
    ... such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple ... Mutations in at least four genes increase the risk of developing the different ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  5. GM3 synthase deficiency 
    ... Rotig A, Paquis-Flucklinger V. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J Hum ... Platt FM, Crosby AH. Infantile-onset symptomatic epilepsy syndrome caused by a ... Am J Med Genet A. 2013 Apr;161A(4):875-9. doi: 10.1002/ajmg.a.35826. ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  6. Cytochrome c oxidase deficiency 
    ... problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics