Mutations of the human amphiphysin/BIN1, K35N located in H0, D151N, R154Q in the BAR domains and Q434X and K436X in the SH3 domain lead to a neuromuscular disorder called centronuclear myopathy (CNM)31, 32, 33, 34 with various degrees of muscle weakness. Here, BIN1 is linked to centronuclear myopathy.