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Results 1 - 4 of 4 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. 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
  3. 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
  4. Hereditary paraganglioma-pheochromocytoma 
    ... PPGL4 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2; PPGL2 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3; PPGL3 PHEOCHROMOCYTOMA/PARAGANGLIOMA ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics