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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak, Sebahattin; Foley, Aileen Reghan; Herrmann, Ralf; Willer, Tobias; Yau, Shu; Stevens, Elizabeth; Torelli, Silvia; Brodd, Lina; Kamynina, Alisa; Vondracek, Petr; Roper, Helen; Longman, Cheryl; Korinthenberg, Rudolf; Marrosu, Gianni; Nürnberg, Peter; Michele, Daniel E; Plagnol, Vincent; Hurles, Matt; Moore, Steven A; Sewry, Caroline A; Campbell, Kevin P; Voit, Thomas; Muntoni, Francesco.
Affiliation
  • Cirak S; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.
Brain ; 136(Pt 1): 269-81, 2013 Jan.
Article in En | MEDLINE | ID: mdl-23288328
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Full text: 1 Database: MEDLINE Main subject: Muscular Dystrophies / Mutation / Nucleotidyltransferases Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Brain Year: 2013 Type: Article Affiliation country: United kingdom
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Full text: 1 Database: MEDLINE Main subject: Muscular Dystrophies / Mutation / Nucleotidyltransferases Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Brain Year: 2013 Type: Article Affiliation country: United kingdom