Associated Papers
Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
Bouchoucha S et al.
Frontiers in Pediatrics, 2023
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
Najjar D et al.
Genes, 2022
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Vogt J et al.
Clinical Genetics, 2020
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
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
Ochala J et al.
Human Molecular Genetics, 2012
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
Monnier N et al.
Neuromuscular Disorders : Nmd, 2009
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
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