In collaboration with the Gurnett and Johnson labs, we looked at pathogenic mutations in tropomyosin that cause various forms of skeletal myopathies and birth defects.
McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN. A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2 directed myogenesis. JCI Insight. 2022 May 17:e152466. doi: 10.1172/jci.insight.152466. Epub ahead of print. PMID: 35579956.