Congenital myasthenic syndromes: current diagnostic and therapeutic aspects
This DPhil thesis presents four separate studies on diagnostic and therapeutic aspects of the congenital myasthenic syndromes (CMS). The first is a clinical characterization of syndromes associated with four novel CMS disease genes; DPAGT1, ALG2, ALG14 and GFPT1, which encode proteins involved in...
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| Formato: | Thesis |
| Idioma: | English |
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2014
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