Article
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
International journal of molecular sciences - 9 Oct 2022
Gurgel-Giannetti Juliana, Souza Lucas Santos, Yamamoto Guilherme L, Belisario Marina, Lazar Monize, Campos Wilson, Pavanello Rita de Cassia M, Zatz Mayana, Reed Umbertina, Zanoteli Edmar, Oliveira Acary Bulle, Lehtokari Vilma-Lotta, Casella Erasmo B, Machado-Costa Marcela C, Wallgren-Pettersson Carina, Laing Nigel G, Nigro Vincenzo, Vainzof Mariz
Abstract excerpt
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In...
Topics
- Brazil
- Humans
- Muscle Proteins
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline
- Myotonia Congenita