A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy-Reference-Cited by-同舟云学术

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

Published:2019-09-05 Issue:11 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Roggenbuck Jennifer¹^ORCID,Rich Kelly¹,Morales Ana¹,Tan Christopher A.²,Eck Douglas¹,King Wendy¹,Vatta Matteo²,Winder Thomas²,Elsheikh Bakri¹,Hershberger Ray E.¹,Kissel John T.¹

Affiliation:

1. The Ohio State University Wexner Medical Center Columbus Ohio

2. Invitae Corporation San Francisco California

Funder

Ohio State University

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.924

Reference8 articles.

1. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

2. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

3. Atypical phenotypes in titinopathies explained by second titin mutations

4. Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

5. Analysis of protein-coding genetic variation in 60,706 humans

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1. Titin copy number variations associated with dominant inherited phenotypes;Journal of Medical Genetics;2023-11-07

2. Novel dominant distal titinopathy phenotype associated with copy number variation;Annals of Clinical and Translational Neurology;2021-07-27

3. Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy;Molecular Genetics & Genomic Medicine;2020-08-20

4. TTN missense variants in two siblings with asymmetric facial and limb weakness;Journal of the Neurological Sciences;2020-08

5. Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?;Journal of Neuromuscular Diseases;2020-06-02