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Article

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

20 Jun 2010

Abstract excerpt

OBJECTIVE: To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. PATIENTS AND METHODS: Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. RESULTS: We identified recessive mutations of CHRNE in ten...

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PMID: 20562457
DOI: 10.1136/jnnp.2009.177816

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