Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature-Reference-Cited by-同舟云学术

Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature

Published:2022-06 Issue: Volume:27 Page:101587
ISSN:2452-0144
Container-title:Gene Reports
language:en
Short-container-title:Gene Reports

Author:

El Kadiri Youssef^ORCID,Ratbi Ilham,Sefiani Abdelaziz,Lyahyai Jaber

Funder

Centre National pour la Recherche Scientifique et Technique

Publisher

Elsevier BV

Subject

Genetics

Reference32 articles.

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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. Diagnostic clinical genome and exome sequencing;Biesecker;N. Engl. J. Med.,2014

5. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy;Carmignac;Ann. Neurol.,2007

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1. Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations;Balkan Journal of Medical Genetics;2023-12-01

2. The Meryon Lecture at the 24th annual meeting of the Meryon Society, St. Anne's College, Oxford, UK, 15th July 2022;Neuromuscular Disorders;2023-10

3. Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco;Egyptian Journal of Medical Human Genetics;2023-05-23