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6. A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. Isackson PJ; Tarnopolsky M; Vladutiu GD Mol Genet Metab; 2005 Jul; 85(3):239-42. PubMed ID: 15979037 [TBL] [Abstract][Full Text] [Related]
8. Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern. Wu Y; Weber JL; Vladutiu GD; Tarnopolsky MA Mol Genet Metab; 2011 Dec; 104(4):587-91. PubMed ID: 21880526 [TBL] [Abstract][Full Text] [Related]
9. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease. Quintans B; Sanchez-Andrade A; Teijeira S; Fernandez-Hojas R; Rivas E; López MJ; Navarro C Arch Neurol; 2004 Jul; 61(7):1108-10. PubMed ID: 15262743 [TBL] [Abstract][Full Text] [Related]
10. [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]. Delmont E; Sacconi S; Berge-Lefranc JL; Aquaron R; Butori C; Desnuelle C Rev Neurol (Paris); 2008 Nov; 164(11):912-6. PubMed ID: 18808785 [TBL] [Abstract][Full Text] [Related]
11. Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease. Inal-Gültekin G; Toptaş-Hekimoğlu B; Görmez Z; Gelişin Ö; Durmuş H; Ergüner B; Demirci H; Sağıroğlu MŞ; Parman Y; Deymeer F; Yılmaz-Aydoğan H; Pençe S; Bekircan-Kurt CE; Tan E; Erdem-Özdamar S; Üstek D; Giger U; Öztürk O; Serdaroğlu-Oflazer P Neuromuscul Disord; 2017 Nov; 27(11):997-1008. PubMed ID: 28967462 [TBL] [Abstract][Full Text] [Related]
12. PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease? de Luna N; Brull A; Lucia A; Santalla A; Garatachea N; Martí R; Andreu AL; Pinós T Neuromuscul Disord; 2014 Dec; 24(12):1079-86. PubMed ID: 25240406 [TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. Deschauer M; Opalka JR; Lindner A; Zierz S Mol Genet Metab; 2001 Dec; 74(4):489-91. PubMed ID: 11749054 [TBL] [Abstract][Full Text] [Related]
20. Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease. Nogales-Gadea G; Pinós T; Lucia A; Arenas J; Camara Y; Brull A; de Luna N; Martín MA; Garcia-Arumí E; Martí R; Andreu AL Brain; 2012 Jul; 135(Pt 7):2048-57. PubMed ID: 22730558 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]