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Rhabdomyolysis and metabolic muscle disorders v1.24 | TK2 | Louise Daugherty Added comment: Comment on phenotypes: changed phenotype to Mitochondrial DNA depletion syndrome 2 (myopathic type), as Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 relates to variants of the gene SUCLA2, not TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.24 | TK2 | Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TK2 | Sarah Leigh marked TK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TK2 | Sarah Leigh added TK2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | TK2 | Sarah Leigh reviewed TK2 |