A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis

Nemaline myopathy (NM) is the most common congenital myopathy, characterized by extreme weakness of the respiratory, limb, and facial muscles. Pathogenic variants in Tropomyosin 2 (TPM2), which encodes a skeletal muscle–specific actin binding protein essential for sarcomere function, cause a spectru...

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Detalles Bibliográficos
Autores principales: McAdow, Jennifer, Yang, Shuo, Ou, Tiffany, Huang, Gary, Dobbs, Matthew B., Gurnett, Christina A., Greenberg, Michael J., Johnson, Aaron N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309062/
https://www.ncbi.nlm.nih.gov/pubmed/35579956
http://dx.doi.org/10.1172/jci.insight.152466

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309062/
https://www.ncbi.nlm.nih.gov/pubmed/35579956
http://dx.doi.org/10.1172/jci.insight.152466

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