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Journal article

Congenital myasthenic syndrome caused by mutations in DPAGT.

Abstract:: Congenital myasthenic syndromes with prominent limb girdle involvement are an important differential diagnosis for congenital myopathies because of the therapeutic considerations. We present a case where accurate diagnosis was delayed for many years. Fluctuations of weakness were misinterpreted as effects of alternative treatments. Weakness was generalised, most prominently in the arms. Fatigability was more prominent in less affected muscles revealed by a positive Simpson test. Stimulation s...
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Publication status:: Published

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APA Style

Klein, A., Robb, S., Rushing, E., Liu, W., Belaya, K., & Beeson, D. (2015). Congenital myasthenic syndrome caused by mutations in DPAGT. Neuromuscular Disorders : NMD, 25(3), 253–256.

MLA Style

Klein, A., et al. “Congenital Myasthenic Syndrome Caused by Mutations in DPAGT.” Neuromuscular Disorders : NMD, vol. 25, no. 3, 2015, pp. 253–56.

Chicago Style

Klein, A, S Robb, E Rushing, W Liu, K Belaya, and D Beeson. 2015. “Congenital Myasthenic Syndrome Caused by Mutations in DPAGT.” Neuromuscular Disorders : NMD 25 (3): 253–56.
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Publisher copy:: 10.1016/j.nmd.2014.11.013

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+ Klein, A More by this author

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+ Robb, S More by this author

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+ Rushing, E More by this author

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+ Liu, W More by this author

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+ Belaya, K More by this author

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Bibliographic Details

Journal:: Neuromuscular disorders : NMD
Volume:: 25
Issue:: 3
Pages:: 253-256
Publication date:: 2015-03-01
DOI:: 10.1016/j.nmd.2014.11.013
EISSN:: 1873-2364
ISSN:: 0960-8966

Item Description

Language:: English
Keywords:: Congenital myasthenia

DPAGT1

Differential diagnosis to congenital myopathy
Pubs id:: pubs:501292
UUID:: uuid:8928add6-1962-4810-9d1e-f59dd94cec06
Local pid:: pubs:501292
Source identifiers:: 501292
Deposit date:: 2015-01-19

Terms of use

Copyright date:: 2015

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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