Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)-Reference-Cited by-同舟云学术

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Published:2013-06 Issue:6 Volume:23 Page:483-488
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Pierson Tyler Mark,Markello Thomas,Accardi John,Wolfe Lynne,Adams David,Sincan Murat,Tarazi Noor M.,Fajardo Karin Fuentes,Cherukuri Praveen F.,Bajraktari Ilda,Meilleur Katy G.,Donkervoort Sandra,Jain Mina,Hu Ying,Lehky Tanya J.,Cruz Pedro,Mullikin James C.,Bonnemann Carsten,Gahl William A.,Boerkoel Cornelius F.,Tifft Cynthia J.

Funder

NIH Undiagnosed Diseases Program

The Intramural Research Program of the National Human Genome Research Institute of the National Institutes of Health

The Intramural Research Program of the National Institute of Neurological Disorders and Stroke of the National Institutes of Health

The Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular Diseases.

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD);Logan;Nat Genet,2011

2. A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus;Hartley;Neuromuscul Disord,2007

3. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Ann Neurol,2003

4. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro;Nagase;DNA Res,2001

5. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores;Boyden;Neurogenetics,2012

Cited by 22 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. The Notch signaling pathway in skeletal muscle health and disease;Muscle & Nerve;2022-08-15

2. Identification of a novel mutation and genotype–phenotype relationship in MEGF10 myopathy;Neuromuscular Disorders;2022-05

3. The Notch signaling network in muscle stem cells during development, homeostasis, and disease;Skeletal Muscle;2022-04-22

4. Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population;Genes;2021-11-10

5. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy;Neuromuscular Disorders;2021-10