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Clinical features in a series of fast channel congenital myasthenia syndrome.

Abstract:

Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We report a case of 12 fast channel patients to highlight clinical features and management difficulties. Patients were diagnosed through genetic screening and identification of mutations shown to cause fast channel syndrome. Data was obtained from clinical notes, history, examination and follow up. Patterns of muscle weakness involved limb, trunk, bulbar, respiratory, facial and extraocular muscle...

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Publisher copy:
10.1016/j.nmd.2011.08.002

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Lashley, D More by this author
Jayawant, S More by this author
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Journal:
Neuromuscul Disord
Volume:
22
Issue:
2
Pages:
112-117
Publication date:
2012-02-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:0955f75a-7795-4045-bee9-bf083e91fa8e
Source identifiers:
180436
Local pid:
pubs:180436

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