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

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

Abstract 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 ma...

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Autores principales: Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert Hopkin, Cameron Thomas, David Cooper, Kristen Suhrie
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
intronic variants
myopathy
RNA sequencing
RYR1
whole‐genome sequencing
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/591293b797094854879f0af6d396af3c
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https://doaj.org/article/591293b797094854879f0af6d396af3c

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