Article
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jun 2020
Papadimas George K, Vargiami Efthimia, Dragoumi Pinelopi, Van Coster Rudy, Smet Joel, Seneca Sara, Papadopoulos Constantinos, Kararizou Evangelia, Zafeiriou Dimitrios
Abstract excerpt
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 severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the...
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