Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

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 fa...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569467/
https://www.ncbi.nlm.nih.gov/pubmed/36233295
http://dx.doi.org/10.3390/ijms231911995

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569467/
https://www.ncbi.nlm.nih.gov/pubmed/36233295
http://dx.doi.org/10.3390/ijms231911995

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