title: Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.
authors: Paulo José
authors: PJ
authors: Lorenzoni
authors: Rosana Herminia
authors: RH
authors: Scola
authors: Cláudia S Kamoi
authors: CS
authors: Kay
authors: Hanns
authors: H
authors: Lochmüller
authors: Lineu Cesar
authors: LC
authors: Werneck
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics*; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000172:deficiency / Q000235:genetics
chemical_list: C511692:DOK7 protein, human; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel