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

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 fi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10161565/
https://www.ncbi.nlm.nih.gov/pubmed/37147571
http://dx.doi.org/10.1186/s12883-023-03225-3

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