AUTHOR=Cordenier Ann , Flamez Anja , de Ravel Thomy , Gheldof Alexander , Pannone Luigi , De Asmundis Carlo , Pappaert Gudrun , Bissay Véronique 

TITLE=Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1011956

DOI=10.3389/fneur.2022.1011956

ISSN=1664-2295

ABSTRACT=<p>Myotonia congenita is a rare neuromuscular disorder caused by <italic>CLCN1</italic> mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome. Bearing in mind the previously reported cases of cardiac arrhythmias in myotonia congenita patients, we discuss the possible involvement of the CLCN1-gene mutations in primary cardiac arrhythmia.</p>