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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
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
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
Ottenheijm CA et al.
Human Molecular Genetics, 2011
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Lawlor MW et al.
Human Mutation, 2010
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
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