Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.

ABSTRACT: Biallelic pathogenic variants at TK2 lead to a severe and progressive myopathy (TK2d). For a disease with unspecific clinical findings, and the possibility of a supplementation therapy that changes the natural history of the disease, highlighting clinical features that increase suspicion and accelerate diagnosis is essential. Clinical and genetic findings of 36 Brazilian patients with TK2d were identified and presented in this work. Genotype-phenotype correlation was performed for recurrent and novel variants. Motor and respiratory assessments were systematically performed in 13 patients, three of them were receiving the nucleosides replacement therapy. Natural history data was gathered from the follow up of five adult patients. Eight patients with the infantile form, 19 with childhood-ons

SUBMITTER: Moreno CAM 

PROVIDER: S-EPMC11910553 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature