TK2 mutation presenting as indolent myopathy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23303857.
- Also identified by DOI 10.1212/WNL.0b013e31827f0ff7 and PMC identifier 3590052.
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Abstract
Recessive mutations in the TK2 gene typically cause fatal infantile mitochondrial DNA (mtDNA) depletion syndromes (MDS).(1-3) However, the progression of weakness may vary,(4) as shown by recently described adult patients with late-onset myopathy.(5,6) To date, only 5 adult patients with TK2-related MDS have been reported. Herein, we describe a man who had several unusual features. Clinically, he was weak as a child but sought medical attention as an adult. At the molecular level, multiple mtDNA deletions in muscle were more prominent than mtDNA depletion.
Medical subject headings
- Muscular Diseases
- Mutation
- Thymidine Kinase