Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient-Reference-Cited by-同舟云学术

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Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient

Published:2017-09 Issue:9 Volume:27 Page:856-860
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Ikenberg Elena,Karin Ivan,Ertl-Wagner Birgit,Abicht Angela,Bulst Stefanie,Krause Sabine,Schoser Benedikt,Reilich Peter,Walter Maggie C.

Publisher

Elsevier BV

Subject

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

Reference23 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. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions;de Fuenmayor-Fernández de la Hoz;Neuromuscul Disord,2016

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

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

5. Structural basis for activation of the titin kinase domain during myofibrillogenesis;Mayans;Nature,1998

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

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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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