Article
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Scientific reports - 15 Mar 2025
Moreno Cristiane Araujo Martins, Artilheiro Mariana Cunha, Fonseca Alulin Tacio Quadros Santos Monteiro, da Silva André Macedo Serafim, Fernandes Tatiana Ribeiro, Camelo Clara Gontijo, Paiva Michelle Abdo, di Pace Filipe Tupinamba, Pessoa Andre Luiz Santos, Braga Vitor Lucas Lopes, Mariano Tamiris Carneiro, de Paula Estephan Eduardo, da Penha Morita Maria, Covaleski Anna Paula Paranhos Miranda, Van der Linden Vanessa, Tomaselli Pedro José, Scarpellini Giuliano Roberto, Gurgel-Giannetti Juliana, Sobrinho Lívia Maria Ferreira, de Oliveira Thais Martins, Mendonça Rodrigo Holanda, Lucas Elizabeth Lemos Silveira, Cruzeiro Marcelo Maroco, Junior Carlos Wagner Pereira, Júnior Wilson Marques, Sobreira Claudia Ferreira da Rosa, Oliveira Acary Sousa Bulle, Kok Fernando, Hirano Michio, Nascimento-Osorio Andres, Schlesinger David, Zanoteli Edmar
Abstract excerpt
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...
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