Novel pathomechanisms implicated in defects of neuromuscular transmission [thesis]

Marina Dusl
A, Lochmuller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011;88(2):162-72. Chaouch A, Muller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmuller H. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 2012;259(3):474-81. Congenital myasthenic syndrome with tubular
more » ... ggregates caused by GFPT1 mutations. J Neurol 2011;259(5):838-50. Abicht A, Dusl M, Gallenmuller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Muller JS, Lochmuller H. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided geneafter-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 2012;33(10):1474-84. Gallenmuller C, Muller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Muller JS, Lochmuller H, Abicht A. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromuscul Disord 2014;24(1):31-5.
doi:10.5282/edoc.18027 fatcat:idm4ajuf6bd5tpl4lgykmakw3y