Article
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nature genetics - 1 Sept 2007
Nicot Anne-Sophie, Toussaint Anne, Tosch Valérie, Kretz Christine, Wallgren-Pettersson Carina, Iwarsson Erik, Kingston Helen, Garnier Jean-Marie, Biancalana Valérie, Oldfors Anders, Mandel Jean-Louis, Laporte Jocelyn
Abstract excerpt
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. By direct sequencing of functional candidate...
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