Associated Papers
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
Wang G et al.
Journal of Human Genetics, 2023
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B et al.
Journal of Child Neurology, 2022
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J et al.
Journal of Medical Genetics, 2021
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.
Streff H et al.
European Journal of Medical Genetics, 2019
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG et al.
Molecular Genetics & Genomic Medicine, 2017
Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.
Amarasinghe C et al.
Biochemistry, 2016
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.
van der Pol WL et al.
Molecular Genetics & Genomic Medicine, 2014
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