These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Salmikangas P, Mykkänen OM, Grönholm M, Heiska L, Kere J, Carpén O. Hum Mol Genet; 1999 Jul; 8(7):1329-36. PubMed ID: 10369880 [Abstract] [Full Text] [Related]
3. myotilin Mutation found in second pedigree with LGMD1A. Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. Am J Hum Genet; 2002 Dec; 71(6):1428-32. PubMed ID: 12428213 [Abstract] [Full Text] [Related]
4. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK. J Neuropathol Exp Neurol; 2009 Jun; 68(6):701-7. PubMed ID: 19458539 [Abstract] [Full Text] [Related]
13. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I. J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502 [Abstract] [Full Text] [Related]