Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries

BACKGROUND: Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1‐related myopathies (RYR1‐RM); the most common subgroup of congenital myopathies. METHODS: Congenital myopathy presents a diagnostic challenge due to the need for multiple testing modalities to identify the many diff...

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Detalles Bibliográficos
Autores principales: Shillington, Amelle, Zea Vera, Alonso, Perry, Tanya, Hopkin, Robert, Thomas, Cameron, Cooper, David, Suhrie, Kristen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580091/
https://www.ncbi.nlm.nih.gov/pubmed/34528764
http://dx.doi.org/10.1002/mgg3.1804

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580091/
https://www.ncbi.nlm.nih.gov/pubmed/34528764
http://dx.doi.org/10.1002/mgg3.1804

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