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: | , , , , , , , , , , , , |
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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 |