1 | MATR3, MPD2 |
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. | |
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. | |
Am J Hum Genet 84(4):511-8. Epub 2009 Apr 2. 2009 | |
2 | MYOT, MPD2 |
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). | |
Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA. | |
Ann Hum Genet 70(Pt 3):414-6. 2006 | |
3 | MPD2 |
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy : clinical description and gene localization to 5q31. | |
Feit H, et al. | |
Am J Hum Genet 63 : 1732-1742. 1998 | |