TTN missense variants in two siblings with asymmetric facial and limb weakness-Reference-Cited by-同舟云学术

TTN missense variants in two siblings with asymmetric facial and limb weakness

Published:2020-08 Issue: Volume:415 Page:116885
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Sasaki Ryo,Ohta Yasuyuki,Tadokoro Koh,Matsumoto Namiko,Nomura Emi,Omote Yoshio,Takemoto Mami,Hishikawa Nozomi,Yamashita Toru,Kumutpongpanich Theerawat,Nishino Ichizo,Abe Koji

Funder

Grant-in-Aid for Scientific Research

Grants-in-Aid from the Research Committee

Japan Agency for Medical Research and Development

Intramural Research Grant

AMED

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference9 articles.

1. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS;Tian;Neurol. Genet.,2015

2. A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy;Roggenbuck;Mol Genet Genomic Med.,2019

3. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system;Bang;Circ. Res.,2001

4. Distal myopathies--new genetic entities expand diagnostic challenge;Udd;Neuromuscul. Disord.,2012

5. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin;Ohlsson;Brain.,2012

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1. Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin;WIREs Mechanisms of Disease;2023-12-29

2. Facial Asymmetry: A Narrative Review of the Most Common Neurological Causes;Symmetry;2022-04-04

3. Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies;Genetic Testing and Molecular Biomarkers;2021-12-01