Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.E174A
Back to variants list

TPM3

NM_152263.4:p.E174A

Associated Papers

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

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

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L et al.

Neuromuscular Disorders : Nmd, 2013

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P et al.

Neuromuscular Disorders : Nmd, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."