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

Abstract:

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 pathologically, though not yet genetically characterised. A fourth case, with XLMTM, also showed electrophysiological features of a neuromuscular transmission defect. Three (including the XLMTM case) showed i...

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Publication status:
Published

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Publisher copy:
10.1016/j.nmd.2011.02.012

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Journal:
Neuromuscular disorders : NMD
Volume:
21
Issue:
6
Pages:
379-386
Publication date:
2011-06-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:410e2092-c069-4306-ac0a-9d503b75f4dd
Source identifiers:
149918
Local pid:
pubs:149918

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