A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

 A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Abstract Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differen...

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Bibliographic Details
Main Authors: Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai
Format: Article
Language:English
Published: BMC 2023-05-01
Series:BMC Neurology
Subjects:
Congenital myopathy
Distal myopathy
Tropomyosin
TPM3
Case report
Online Access:https://doi.org/10.1186/s12883-023-03225-3

Internet

https://doi.org/10.1186/s12883-023-03225-3

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