Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.

Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS). We describe three children whose clinical and electrophysiological findings originally suggested CMS, in whom CNM was diagnosed pathologica...

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Bibliographic Details
Main Authors: Robb, SA, Sewry, C, Dowling, J, Feng, L, Cullup, T, Lillis, S, Abbs, S, Lees, M, Laporte, J, Manzur, A, Knight, R, Mills, K, Pike, MG, Kress, W, Beeson, D, Jungbluth, H, Pitt, M, Muntoni, F
Format: Journal article
Language:English
Published: 2011