label: mitochondrial DNA depletion syndrome, myopathic form
label_lc: mitochondrial dna depletion syndrome, myopathic form
description: 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.