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