{"orpha":730746,"name":"Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730746/","orphanet_url":"https://www.orpha.net/en/disease/detail/730746","names":{"fr":{"name":"Déficit de maintenance de l'ADN mitochondrial associé à TK2, à apparition tardive, forme myopathique"},"de":{"name":"Spät beginnendes TK2-assoziiertes mitochondriales DNA-Depletionssyndrom, myopathische Form"},"es":{"name":"Defecto de mantenimiento del ADN mitocondrial asociada al gen TK2 de inicio tardío, forma miopática"},"it":{"name":"Difetto del mantenimento del DNA mitocondriale correlato a TK2 ad esordio tardivo, forma miopatica"},"nl":{"name":"Laat optredend TK2-gerelateerd mitochondriaal DNA-handhavingsdefect, myopathische vorm"},"pt":{"name":"Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form"},"pl":{"name":"Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form"},"cs":{"name":"Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form"}},"xrefs":[{"source":"OMIM","code":"609560","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254875,"name":"TK2-related mitochondrial DNA maintenance defect, myopathic form","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"TK2","name":"thymidine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23230576[PMID]","hgnc":"11831","ensembl":"ENSG00000166548","omim":"188250","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}