Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature
Author:
Funder
UK National Specialised Commissioning Team
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference66 articles.
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4. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients;Abicht;Hum Mutat,2012
5. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates;Belaya;Am J Hum Genet,2012
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