A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Jocelyn Laporte, Ling Hu, Christine Kretz et al. · Nature Genetics · 1996 · 626 citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations in dynamin 2 cause dominant centronuclear myopathy

Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics · 2005 · 461 citations

Life Sciences, Genetics, Molecular Genetics +10

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

Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch et al. · Nature Genetics · 2007 · 433 citations

Life Sciences, Genetics, Molecular Genetics +12

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Marc Bitoun, Jorge A. Bevilacqua, Bernard Prudhon et al. · Annals of Neurology · 2007 · 149 citations · Full text

Medicine, Neurology, Pediatrics +8

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

Dirk Fischer · Brain · 2006 · 124 citations

Medicine, Neurology, Pathology +17