| 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 | LGMD2L |
| A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. | |
| Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. | |
| Brain 130(Pt 2):368-80. Epub 2006 Sep 28. 2007 | |