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...

Cijeli opis

Bibliografski detalji
Glavni autori: 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
Jezik:English
Izdano: 2011