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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Bibliographic Details
Main Authors: Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert Hopkin, Cameron Thomas, David Cooper, Kristen Suhrie
Format: Article
Language:English
Published: Wiley 2021-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
intronic variants
myopathy
RNA sequencing
RYR1
whole‐genome sequencing
Online Access:https://doi.org/10.1002/mgg3.1804

Internet

https://doi.org/10.1002/mgg3.1804

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