Associated Papers
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Robaszkiewicz K et al.
International Journal of Molecular Sciences, 2023
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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