Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene
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The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few ... ...
