The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Martin KrennMerve SenerJakob RathGudrun ZulehnerOmar KeritamMatias WagnerFranco LacconeStephan IglsederSonja MarteManuela BaumgartnerAstrid EisenkölblChristian LiechtensteinSabine RudnikStefan QuasthoffSusanne GrinzingerJohannes SpengerSaskia B WortmannWolfgang N LöscherFritz ZimprichAnna KellersmannMika RappoldGünther BernertMichael FreilingerHakan CetinPublished in: Journal of neurology (2022)
Our study presents the first systematic characterization of individuals with CMS in Austria, providing prevalence estimates and genotype-phenotype correlations that may help to improve the diagnostic approach and patient management.
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