Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern-Reference-Cited by-同舟云学术

Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern

Published:2022-08 Issue:8 Volume:32 Page:687-691
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bevilacqua Jorge A.^ORCID,Contreras Juan Pablo,Trangulao Alejandra,Hernández Úrsula,Brochier Guy,Díaz Jorge,Hughes Ricardo,Campero Mario,Romero Norma B.

Publisher

Elsevier BV

Subject

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

Reference19 articles.

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2. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy;Citirak;Neuromuscul Disord,2014

3. Genetic Diagnostics for Neurologists;Silveira-Moriyama;Continuum (Minneap Minn).,2018

4. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies;Marttila;Hum Mutat,2014

5. Tropomyosin-based regulation of the actin cytoskeleton in time and space;Gunning;Physiological reviews,2008

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

2. A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion;Genes, Chromosomes and Cancer;2023-10-03

3. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies;Annals of Clinical and Translational Neurology;2023-06-02

4. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population;Genes;2022-06-16