Articles with "colq" as a keyword



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Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients

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Published in 2019 at "Acta Neurologica Belgica"

DOI: 10.1007/s13760-019-01246-9

Abstract: Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of defects in the structure and in the function of neuromuscular junctions. Molecular genetic diagnosis is important to select the most suitable therapeutic… read more here.

Keywords: congenital myasthenic; treatment; colq; gene ... See more keywords