Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy

Two likely causative mutations in the RYR1 gene were identified in two patients with myopathy with tubular aggregates, but no evidence of cores or core‐like pathology on muscle biopsy. These patients were clinically evaluated and underwent routine laboratory investigations, electrophysiologic tests,...

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Detalles Bibliográficos
Autores principales: Vattemi, Gaetano Nicola Alfio, Rossi, Daniela, Galli, Lucia, Catallo, Maria Rosaria, Pancheri, Elia, Marchetto, Giulia, Cisterna, Barbara, Malatesta, Manuela, Pierantozzi, Enrico, Tonin, Paola, Sorrentino, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical and Translational Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539902/
https://www.ncbi.nlm.nih.gov/pubmed/35666680
http://dx.doi.org/10.1111/ejn.15728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539902/
https://www.ncbi.nlm.nih.gov/pubmed/35666680
http://dx.doi.org/10.1111/ejn.15728

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