CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.34 3′UTR variant in KLHL40 causes nemaline myopathy

Autor: Dofash, L., Faiz, F., Servián-Morilla, E., Rivas, E., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.
Zdroj: In Neuromuscular Disorders October 2021 31 Supplement 1:S60-S60
Databáze: ScienceDirect