Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy-Reference-Cited by-同舟云学术

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

Published:2020-08-20 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Rich Kelly A.¹^ORCID,Moscarello Tia²,Siskind Carly³,Brock Guy⁴,Tan Christopher A.⁵,Vatta Matteo⁵,Winder Thomas L.⁵,Elsheikh Bakri¹,Vicini Leah¹,Tucker Brianna²,Palettas Marilly⁴,Hershberger Ray E.¹,Kissel John T.¹,Morales Ana¹⁵,Roggenbuck Jennifer¹^ORCID

Affiliation:

1. The Ohio State University Wexner Medical Center The Ohio State University Columbus OH USA

2. Stanford Center for Inherited Cardiovascular Disease Stanford University Stanford CA USA

3. Stanford Health Care Stanford University Stanford CA USA

4. The Ohio State University Center for Biostatistics The Ohio State University Columbus OH USA

5. Invitae Corporation San Francisco CA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1460

Reference33 articles.

1. Online Mendelian inheritance in man OMIM®.Baltimore MD:McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University;2020. Retrieved fromhttps://omim.org/

2. Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

3. Prevalence of Titin Truncating Variants in General Population

4. Role of Titin Missense Variants in Dilated Cardiomyopathy

5. Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge

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4. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy;Nature Genetics;2024-03

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