Articles with "mutation brazilian" as a keyword



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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

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Published in 2018 at "Journal of Neurology"

DOI: 10.1007/s00415-018-8736-8

Abstract: The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study… read more here.

Keywords: common chrne; chrne mutation; mutation brazilian; congenital myasthenic ... See more keywords