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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |