Associated Papers
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M et al.
Genes, 2021
The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.
Borovikov YS et al.
International Journal of Molecular Sciences, 2018
The reason for a high Ca2+-sensitivity associated with Arg91Gly substitution in TPM2 gene is the abnormal behavior and high flexibility of tropomyosin during the ATPase cycle.
Borovikov YS et al.
Biochemical and Biophysical Research Communications, 2017
A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
Jin JY et al.
International Journal of Clinical and Experimental Pathology, 2017
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
Mutations in TPM2 and congenital fibre type disproportion.
Clarke NF et al.
Neuromuscular Disorders : Nmd, 2012
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