Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies-Reference-Cited by-同舟云学术

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies

Published:2021-12-01 Issue:12 Volume:25 Page:757-764
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Salih Mustafa A.¹,Hamad Muddathir H.¹,Savarese Marco²,Alorainy Ibrahim A.³,Al-Jarallah Abdullah S.⁴,Alkhalidi Hisham⁵,AlQudairy Hanan⁶,Albader Anoud⁶,Alotaibi Amal Jahz⁶,Alsagob Maysoon⁶,Al-Bakheet Albandary⁶,Colak Dilek⁷,Udd Bjarne⁸,Kaya Namik⁶^ORCID

Affiliation:

1. Division of Pediatric Neurology, Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.

2. The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

3. Department of Radiology and Diagnostic Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

4. Pediatric Cardiology Division, Cardiac Science Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

5. Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

6. Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, Saudi Arabia.

7. Biostatistics, Epidemiology, and Scientific Computing Department, MBC: 03, Riyadh, Saudi Arabia.

8. Tampere Neuromuscular Research Unit, The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2021.0085

Reference28 articles.

1. ISCA2mutation causes infantile neurodegenerative mitochondrial disorder

2. Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

3. Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome

4. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

5. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

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