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Letter

Nature Genetics 39, 1134–1139 (1 September 2007) | doi:10.1038/ng2086

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Anne-Sophie Nicot , Anne Toussaint , Val|[eacute]|rie Tosch , Christine Kretz , Carina Wallgren-Pettersson , Erik Iwarsson , Helen Kingston , Jean-Marie Garnier , Val|[eacute]|rie Biancalana , Anders Oldfors , Jean-Louis Mandel & Jocelyn Laporte

Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases.