The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications-Reference-Cited by-同舟云学术

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

Published:2021-09 Issue:5 Volume:8 Page:715-720
ISSN:2352-3042
Container-title:Genes & Diseases
language:en
Short-container-title:Genes & Diseases

Author:

Xu Haoyue,Liu Hang,Chen Tao,Song Bo,Zhu Jin^ORCID,Liu Xing,Li Ming,Luo Cong

Funder

Chongqing Science and Technology Commission

Publisher

Elsevier BV

Subject

Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry

Reference26 articles.

1. Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation;Kiphuth;J Neurol,2010

2. TPM3 mutation in one of the original cases of cap disease;Ohlsson;Neurology,2009

3. Mutations in TPM3 are a common cause of congenital fiber type disproportion;Clarke;Ann Neurol,2008

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

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

2. Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy;Molecular Diagnosis & Therapy;2022-07-07

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