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Table 1 Genes implicated in X-linked recessive, autosomal-recessive and autosomal-dominant centronuclear myopathy.

From: Centronuclear (myotubular) myopathy

Gene Gene product Locus Inheritance Reference
MTM1 Myotubularin Xq28 Recessive Laporte et al. (1996) [96]
DNM2 Dynamin 2 19p13.2 Autosomal-dominant Bitoun et al. (2005) [76]
RYR1* Skeletal muscle ryanodine receptor 19q13.1 Autosomal-dominant Jungbluth et al. (2007) [82]
BIN1 Amphiphysin 2 2q14 Autosomal-recessive Nicot et al. (2007) [59]
MTMR14** Myotubularin-related protein 14 (hJUMPY) 3p25.3 uncertain Tosch et al. (2006) [140]
  1. *A mutation in the RYR1 gene has only been identified in one isolated case to date.
  2. **Mutations in the MTMR14 gene have been identified in only two families with uncertain mode of inheritance.