Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy

Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive myopathy due to biallelic pathogenic variants in ATP2A1, encoding the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase SERCA1. About 40 patients have been reported so far. Our knowledge about the natural histo...

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Detalles Bibliográficos
Autores principales: Velardo, Daniele, Antognozzi, Sara, Rimoldi, Martina, Pagliarani, Serena, Cogiamanian, Filippo, Barbieri, Sergio, Corti, Stefania, Comi, Giacomo Pietro, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272758/
https://www.ncbi.nlm.nih.gov/pubmed/37332993
http://dx.doi.org/10.3389/fneur.2023.1170071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272758/
https://www.ncbi.nlm.nih.gov/pubmed/37332993
http://dx.doi.org/10.3389/fneur.2023.1170071

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