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

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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Bibliographic Details
Main Authors: Jennifer McAdow, Shuo Yang, Tiffany Ou, Gary Huang, Matthew B. Dobbs, Christina A. Gurnett, Michael J. Greenberg, Aaron N. Johnson
Format: Article
Language:English
Published: American Society for Clinical investigation 2022-06-01
Series:JCI Insight
Subjects:
Muscle biology
Online Access:https://doi.org/10.1172/jci.insight.152466

Internet

https://doi.org/10.1172/jci.insight.152466

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