Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.E151A
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TPM3

NM_152263.4:p.E151A

Associated Papers

Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.

Pan SW et al.

Scientific Reports, 2024

Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.

Lambert MR et al.

Skeletal Muscle, 2023

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.

Xu H et al.

Genes & Diseases, 2021

L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish.

Hsu PJ et al.

Journal of Biomedical Science, 2021

Mechanisms of disturbance of the contractile function of slow skeletal muscles induced by myopathic mutations in the tropomyosin TPM3 gene.

Matyushenko AM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M et al.

Human Molecular Genetics, 2015

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M et al.

Human Mutation, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."