TNNT1 myopathy with novel compound heterozygous mutations
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference26 articles.
1. Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction;Jungbluth;Nat Rev Neurol,2018
2. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1;Johnston;Am J Hum Genet,2000
3. Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree;van der Pol;Mol Genet Genomic Med,2014
4. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1);Abdulhaq;Muscle Nerve,2016
5. Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child;Streff;Eur J Med Genet,2019
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3. Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy;Journal of Human Genetics;2022-11-29
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