OBO ID: DOID:0080096

Citations

(2 total)

Term: myofibrillar myopathy 5

Begay, R.L., Tharp, C.A., Martin, A., Graw, S.L., Sinagra, G., Miani, D., Sweet, M.E., Slavov, D.B., Stafford, N., Zeller, M.J., Alnefaie, R., Rowland, T.J., Brun, F., Jones, K.L., Gowan, K., Mestroni, L., Garrity, D.M., Taylor, M.R. (2016) FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.. JACC. Basic to translational science. 1:344-359

Ruparelia, A.A., Oorschot, V., Ramm, G., Bryson-Richardson, R.J. (2016) FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. Human molecular genetics. 25(11):2131-2142