A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain-Reference-Cited by-同舟云学术

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A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Published:2018-10 Issue:10 Volume:28 Page:828-836
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Carbonell-Corvillo P.^ORCID,Tristán-Clavijo E.,Cabrera-Serrano M.,Servián-Morilla E.,García-Martín G.,Villarreal-Pérez L.,Rivas-Infante E.,Area-Gómez E.,Chamorro-Muñoz M.I.^ORCID,Gil-Gálvez A.,Miranda-Vizuete A.^ORCID,Martinez-Mir A.^ORCID,Laing N.,Paradas C.^ORCID

Funder

Health Institute Carlos III and FEDER

Consejería de Salud

Spanish Ministry of Economy and Competitiveness

Alfonso Martín Escudero Foundation

NHMRC Principal Research Fellowship

Publisher

Elsevier BV

Subject

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

Reference21 articles.

1. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus;Voit;Neuromuscul Disord,2001

2. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7;Tajsharghi;Ann Neurol,2003

3. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy;Muelas;Neurology,2010

4. New phenotype and pathology features in MYH7-related distal myopathy;Tasca;Neuromuscul Disord,2012

5. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture;Feinstein-Linial;BMC Med Genet,2016

Cited by 11 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. A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity;Journal of Clinical Investigation;2024-05-01

2. Bioinformatics Analysis of the Biological Properties of Ewing Sarcoma;Journal of Biosciences and Medicines;2024

3. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy;BMC Cardiovascular Disorders;2023-10-04

4. MYH7 in cardiomyopathy and skeletal muscle myopathy;Molecular and Cellular Biochemistry;2023-04-20

5. Pathogenic variants in three families with distal muscle involvement;Neuromuscular Disorders;2023-01

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