has material basis in germline mutation in TK2 mitochondrial DNA depletion syndrome, myopathic form https://github.com/monarch-initiative/mondo/issues/8786 https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_2_myopathic_type OMIM:609560 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. MESH:C563698 ICD9:359.89 MEDGEN:461100 UMLS:C3149750 MTDPS2 thymidine kinase 2 deficiency Orphanet:254875 mitochondrial DNA depletion syndrome 2 (myopathic type) mitochondrial DNA depletion syndrome type 2 SCTID:703527003 GARD:0017228 mtDNA depletion syndrome, myopathic form icd11.foundation:294556832 DOID:0080120 MONDO:0012301 mitochondrial DNA depletion syndrome inborn disorder of pyrimidine metabolism