Associated Papers
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Yavaş C et al.
Genes & Genomics, 2024
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
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Fox MD et al.
Human Molecular Genetics, 2018
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG et al.
Molecular Genetics & Genomic Medicine, 2017
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B et al.
Gene, 2016
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
Abdulhaq UN et al.
Muscle & Nerve, 2016
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Marra JD et al.
Muscle & Nerve, 2015
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