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...
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 |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-05-01
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Series: | BMC Neurology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12883-023-03225-3 |
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