Mitochondrial DNA depletion syndrome, myopathic form

A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.

Also known as: thymidine kinase 2 deficiency, mitochondrial DNA depletion syndrome type 2, mtDNA depletion syndrome, myopathic form, MTDPS2, mitochondrial DNA depletion myopathy, Tk2-related, mitochondrial DNA depletion syndrome 2, mitochondrial DNA depletion syndrome 2 (myopathic type)

17 clinical trials for this condition and its sub-types.