A TPM3 mutation causing cap myopathy-Reference-Cited by-同舟云学术

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A TPM3 mutation causing cap myopathy

Published:2009-10 Issue:10 Volume:19 Page:685-688
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

De Paula Andre Maues,Franques Jerome,Fernandez Carla,Monnier Nicole,Lunardi Joel,Pellissier Jean-François,Figarella-Branger Dominique,Pouget Jean

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Cap disease uncapped;Goebel;Neuromuscul Disord,2007

2. “Cap disease”: new congenital myopathy;Fidzianska;Neurology,1981

3. “Cap disease” – a failure in the correct muscle fibre formation;Fidzianska;J Neurol Sci,2002

4. ’Cap myopathy’: case report of a family;Cuisset;Neuromuscul Disord,2006

5. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2;Lehtokari;Neuromuscul Disord,2007

Cited by 40 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. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy;Skeletal Muscle;2023-11-07

2. Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern;Neuromuscular Disorders;2022-08

3. Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy;Neuromuscular Disorders;2021-04

4. Physical interaction of tropomyosin 3 and STIM1 regulates vascular smooth muscle contractility and contributes to hypertension;Biomedicine & Pharmacotherapy;2021-02

5. Respiratory Failure as the Presenting Symptom in a Sporadic Case of Cap Myopathy;Journal of Neuropathology & Experimental Neurology;2020-11-26

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