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Autor:
Škola Josef, Stádníková Milena, Beneš Jan, Hitka Patrik, Gerych Pavel, Alwail Abdulhamid, Laštůvková Jana, Binder Tomáš
Publikováno v:
Journal of Gynecology and Obstetrics. 9:167
Introduction: Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alpha-actin (1q42) and others. Nemaline myopathy can be inherited as an autos