Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy-Reference-Cited by-同舟云学术

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy

Published:2022-07-07 Issue:5 Volume:26 Page:561-568
ISSN:1177-1062
Container-title:Molecular Diagnosis & Therapy
language:en
Short-container-title:Mol Diagn Ther

Author:

Yogev Yuval^ORCID,Bistritzer Jacob,Sadaka Yair,Michaelovsky Analia,Cavari Yuval,Feinstein Yael,Abu-Madegem Munir,Fellig Yakov,Wormser Ohad,Drabkin Max,Halperin Daniel,Birk Ohad S.^ORCID

Funder

Israel Science Foundation

Morris Kahn Family Foundation

Foulkes Foundation

Ministry of Science and Technology, Israel

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s40291-022-00601-6.pdf

Reference32 articles.

1. Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, et al. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr BioMed Central. 2017;43:101. https://doi.org/10.1186/s13052-017-0419-z.

2. Pelin K. Genetics of the congenital myopathies. eLS. 2021;2(2):1–9.

3. Cohen E, Bonne G, Rivier F, Hamroun D. The 2022 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2021;31:1313–57.

4. Gonorazky HD, Bönnemann CG, Dowling JJ. The genetics of congenital myopathies. Handb Clin Neurol. 2018;148:549–64.

5. Clarke NF, Kolski H, Dye DE, Lim E, Smith RLL, Patel R, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008;63:329–37.

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. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy;Skeletal Muscle;2023-11-07

2. Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report;Journal of Neuromuscular Diseases;2023-09-08