Article
Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 May 2020
Lorenzoni Paulo José, Kay Cláudia Suemi Kamoi, Arndt Raquel Cristina, Hrysay Nyvia Milicio Coblinski, Ducci Renata Dal-Pra, Fustes Otto H Jesus, Töpf Ana, Lochmüller Hanns, Werneck Lineu Cesar, Scola Rosana Herminia
Abstract excerpt
Congenital myasthenic syndromes (CMS) associated with pathogenic variants in the DOK7 gene (DOK7-CMS) have phenotypic overlap with other neuromuscular disorders associated with limb-girdle muscular weakness (LGMW). Genetic analysis of the most common mutation (c.1124_1127dupTGCC) in DOK7 was performed in 34 patients with "unexplained" LGMW associated with non-specific changes in muscle biopsy. Of the 34 patients,...
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