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Results 1 - 5 of 5 for Multiple mitochondrial dysfunctions syndrome 1
  1. ... MMDS Multiple mitochondrial dysfunction syndrome Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 ...
  2. FBXL4-related encephalomyopathic ... encephalomyopathic mtDNA depletion syndrome have weak muscle tone (hypotonia) and ...
  3. ... 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
  4. ... such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple ... Mutations in at least ...
  5. ... ClinicalTrials.gov MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; MC4DN2 MITOCHONDRIAL ...