Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions-Reference-Cited by-同舟云学术

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Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Published:2016-11 Issue:11 Volume:26 Page:749-753
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

de Fuenmayor-Fernández de la Hoz Carlos Pablo,Hernández-Laín Aurelio,Olivé Montse,Fernández-Marmiesse Ana,Domínguez-González Cristina

Publisher

Elsevier BV

Subject

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

Reference24 articles.

1. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin;Moreira;Nat Genet,2000

2. Telethonin-deficiency initially presenting as a congenital muscular dystrophy;Ferreiro;Neuromuscul Disord,2011

3. TCAP gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy;Hayashi;J Am Coll Cardiol,2004

4. A mutation in telethonin alters Nav1.5 function;Mazzone;J Biol Chem,2008

5. Telethonin, a novel sarcomeric protein of heart and skeletal muscle;Valle;FEBS Lett,1997

Cited by 20 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. Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients;Surgical and Experimental Pathology;2024-08-10

2. Clinical and molecular characterization of limb‐girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients;Clinical Genetics;2024-07-17

3. Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy;Mechanism and Genetic Susceptibility of Neurological Disorders;2024

4. TCAP gene is not a common cause of cardiomyopathy in Iranian patients;European Journal of Medical Research;2023-09-26

5. The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7;Human Molecular Genetics;2023-05-22

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