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Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

Abstract:

BACKGROUND: Mutations in the postsynaptic adaptor protein Dok-7 underlie congenital myasthenic syndrome (CMS) with a characteristic limb girdle pattern of muscle weakness. Patients usually do not respond to or worsen with the standard CMS treatments: cholinesterase inhibitors and 3,4-diaminopyridine. However, anecdotal reports suggest they may improve with ephedrine. METHODS: This was an open prospective follow-up study to determine muscle strength in response to ephedrine in Dok-7 CMS. Patie...

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Publication status:
Published

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Authors


Lashley, D More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Jayawant, S More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Journal:
Neurology
Volume:
74
Issue:
19
Pages:
1517-1523
Publication date:
2010-05-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:455fae0d-6f46-44fc-b120-2c194421496b
Source identifiers:
241356
Local pid:
pubs:241356

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