Clara Gontijo Camelo, Cristiane de Araujo Martins Moreno, Mariana da Cunha Artilheiro, Alulin Tácio Quadros Monteiro Fonseca, Juliana Gurgel Gianetti, André Vinícius Barbosa, Karina Carvalho Donis, Jonas Alex Morales Saute, André Pessoa, Hélio Van der Linden, Ana Rita Alcântara Gonçalves, Leslie Domenici Kulikowski, Fernando Kok, Edmar Zanoteli
LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2-RD patients enrolled at seven research centers in Brazil. We identified 58 different pathogenic variants, including 21 novel ones. Six variants were more prevalent and were present in 81...
May 15, 2024: Clinical Genetics