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.; Brain: A Journal of Neurology, 2013, vol. 136, issue 1, p 269, ISSN 00068950. ISBN 00068950.

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