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.
MONDO:0018158
mitochondrial DNA depletion syndrome
is_a
MONDO:0019238
inborn disorder of pyrimidine metabolism
is_a
MTDPS2
related
mitochondrial DNA depletion syndrome 2 (myopathic type)
related
mitochondrial DNA depletion syndrome type 2
exact
mtDNA depletion syndrome, myopathic form
exact
thymidine kinase 2 deficiency
broad