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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: Pflugers Arch. 2019 Jan 31;471(5):683–699. doi: 10.1007/s00424-019-02257-4

Table 1.

Overview of mutations in myosin light chains associated with cardiomyopathies

Gene/Protein Phenotype Mutation References to population studies
MYL2/KLC HCM A13T, F18L, M20L, E22K, N47K, R58Q, D94A, P95A, K104E, E134A, I158L, G162R, D166A, D166V, IVS6-1, IVS5-2, Poetter et al.92, Flavigny et. al.26, Kabaeva et al.54, Olivotto et. al.88, Santos et al. 100, Anderson et. al.5, Richard et al.95, Álvarez-Acosta et al.4, Barth et al.11
RCM G57E Caleshu et al.16
DCM D94A Huang et al.49,
MYL3/ELC HCM E56G, A57G, R63C, V79I, R81H, G128C, M149V, E152K, R154H, H155D, M173V, E177G Richard et al.95, Lee W. et al.64, Chiou et al.17, Andersen et al.6, Fokstuen et al.28, Garcia-Pavia et al.30, Poetter et al.92, Epstein23, Arad at al.8, Kaski et al.56, Morita et al.83, Jay et al.53
RCM E143K Olson et al.89, Caleshu et al.16
DCM Not reported