Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy-Reference-Cited by-同舟云学术

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Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy

Published:2017-11 Issue:11 Volume:27 Page:1018-1022
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Wu Liang,Xiang Bingwu,Zhang Huan,He Xiaoxiao,Shih Celina,Chen Xiang,Cai Tao

Funder

Chinese Ministry of Health Project

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. Diagnostic approach to the congenital muscular dystrophies;Bonnemann;Neuromuscul Disord,2014

2. Congenital muscular dystrophies;Kirschner;Handb Clin Neurol,2013

3. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability;Bogershausen;Am J Hum Genet,2013

4. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations;Di Costanzo;Hum Mol Genet,2014

5. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders;Kitamura;J Hum Genet,2016

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel <i>LMNA</i> Pathogenic Variant;Molecular Syndromology;2024-06-10

2. Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy;Neuromuscular Disorders;2022-08

3. Statistical algorithms for clinical decisions and prevention of genetic-related heart disease;Communications in Statistics: Case Studies, Data Analysis and Applications;2020-04-30

4. Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy;Human Genome Variation;2019-09-03

5. Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles;Frontiers in Physiology;2018-09-07

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