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Journal article

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.

Abstract:

INTRODUCTION: Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation. METHODS: Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant function and expression levels. Patient response to treatment was measured by quantitative myasthenic gravis and Medical Research Council grade strength scores. RESULTS: We report an unusual case due to h...

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Publication status:
Published

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Publisher copy:
10.1002/mus.23534

Authors


Finlayson, S More by this author
Spillane, J More by this author
Kullmann, DM More by this author
Webster, R More by this author
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Journal:
Muscle and nerve
Volume:
47
Issue:
2
Pages:
279-282
Publication date:
2013-02-05
DOI:
EISSN:
1097-4598
ISSN:
0148-639X
URN:
uuid:bf37adea-0c30-400a-8839-e028395220e5
Source identifiers:
369927
Local pid:
pubs:369927

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