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Article

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

BMC neurology - 5 May 2023

Chen Zhiyong, Saini Monica, Koh Jasmine Shimin, Lim Gareth Zigui, Dang Nancy Jiaojiao, Prasad Kalpana, Koh Swee Hoon, Tay Karine Su Shan, Lee Ming, Ong Helen Lisa, Zhao Yi, Tandon Ankit, Chai Josiah Yui Huei

Abstract excerpt

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 differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe...

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Identifiers

PMID: 37147571
DOI: 10.1186/s12883-023-03225-3
PMCID: PMC10161565

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