Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

BACKGROUND AND OBJECTIVES: Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging...

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Detalles Bibliográficos
Autores principales: Moreno, Cristiane Araujo Martins, Artilheiro, Mariana Cunha, Fonseca, Alulin Tacio Quadros Santos Monteiro, Camelo, Clara Gontijo, de Medeiros, Gisele Chagas, Sassi, Fernanda Chiarion, de Andrade, Claudia Regina Furquim, Donkervoort, Sandra, Silva, Andre Macedo Serafim, Dalfior-Junior, Luiz, Abath-Neto, Osorio Lopes, Reed, Umbertina Conti, Bönnemann, Carsten, Zanoteli, Edmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879277/
https://www.ncbi.nlm.nih.gov/pubmed/36714460
http://dx.doi.org/10.1212/NXG.0000000000200056

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