The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes

K.S. Yeung, F.N.Y. Yu, C.W. Fung, S. Wong, H.H.C. Lee, S.T.H. Fung, G.P.G. Fung, K.Y. Leung, W.H. Chung, Y.T. Lee, V.K.S. Ng, M.H.C. Yu, J.L.F. Fung, M.H.Y. Tsang, K.Y.K. Chan, S.H.S. Chan, A.S.Y. Kan, B.H.Y. Chung