Table 1 Genes implicated in X-linked recessive, autosomal-recessive and autosomal-dominant centronuclear 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] |