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Undiagnosed metabolic disorders v1.642 TK2 Arina Puzriakova Phenotypes for gene: TK2 were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069
Undiagnosed metabolic disorders TK2 Arianna Tucci reviewed TK2