The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

According to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD). They are all congenital myopathies and are associated with clinical, pathological and genetic heterogeneity. A ten-year-o...

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Detalles Bibliográficos
Autores principales: Xu, Haoyue, Liu, Hang, Chen, Tao, Song, Bo, Zhu, Jin, Liu, Xing, Li, Ming, Luo, Cong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278530/
https://www.ncbi.nlm.nih.gov/pubmed/34291143
http://dx.doi.org/10.1016/j.gendis.2020.01.010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278530/
https://www.ncbi.nlm.nih.gov/pubmed/34291143
http://dx.doi.org/10.1016/j.gendis.2020.01.010

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