Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01096-z.pdf
Reference16 articles.
1. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands. Neuromuscul Disord. 2000;10:299–306.
2. Laitila J, Wallgren-Pettersson C. Recent advances in nemaline myopathy. Neuromuscul Disord. 2021;31:955–67.
3. Malfatti E, Bohm J, Lacene E, Beuvin M, Romero NB, Laporte J. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy. J Neuromuscul Dis. 2015;2:219–27.
4. Barton PJ, Cullen ME, Townsend PJ, Brand NJ, Mullen AJ, Norman DA, et al. Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T. Genomics. 1999;57:102–9.
5. Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet. 2000;67:814–21.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del);Genes & Genomics;2024-02-16
2. Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3‐Related Spinocerebellar Ataxia;Movement Disorders;2023-08-08
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