| 1 | ANO5, LGMD2L, MMD3 |
| Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. | |
| Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B. | |
| Am J Hum Genet 86(2):213-21. Epub 2010 Jan 21.PMID: 20096397 2010 | |
| 2 | ANO5, MMD3 |
| A new distal myopathy with mutation in anoctamin 5. | |
| Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R. | |
| Neuromuscul Disord 20(12):791-5. Epub 2010 Aug 7. 2010 | |