Article
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Journal of neuroimmunology - 15 Sept 2008
Kinali M, Beeson D, Pitt M C, Jungbluth H, Simonds A K, Aloysius A, Cockerill H, Davis T, Palace J, Manzur A Y, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb S A
Abstract excerpt
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia...
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