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-Reference-Cited by-同舟云学术

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

Published:2021-09-16 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Shillington Amelle¹^ORCID,Zea Vera Alonso²,Perry Tanya³,Hopkin Robert¹,Thomas Cameron²,Cooper David³,Suhrie Kristen⁴

Affiliation:

1. Department of Human Genetics Cincinnati Children’s Hospital Medical Center Cincinnati OH USA

2. Department of Neurology Cincinnati Children’s Hospital Medical Center Cincinnati OH USA

3. Department of Cardiology Cincinnati Children’s Hospital Medical Center Cincinnati OH USA

4. Department of Neonatology Cincinnati Children’s Hospital Medical Center Cincinnati OH USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1804

Reference25 articles.

1. Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients

2. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

3. Type 2 Ryanodine Receptor Domain A Contains a Unique and Dynamic α-Helix That Transitions to a β-Strand in a Mutant Linked with a Heritable Cardiomyopathy

4. Genotype-phenotype correlations in recessive RYR1-related myopathies

5. Embryology and congenital heart disease;Angelini P.;Texas Heart Institute Journal,1995

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