P1.35 Amphiphysin 2 (BIN1) and triad defects in several forms of centronuclear myopathies

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Centronuclear myopathies (CNM) are congenital myopathies characterized by generalized muscle weakness and mislocalization of muscle fiber nuclei. Genetically distinct forms exist and mutations in amphiphysin 2 (BIN1) were identified in autosomal recessive cases. BIN1 has been implicated in membrane remodeling in brain and skeletal muscle. We identified novel BIN1 mutations that impact on several functions of this protein. We found that the two BIN1 isoforms expressed in skeletal muscle possess the phosphoinositide-binding domain and are specifically targeted to the triads, close to the DHPR–RYR1 complex.