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Coexistence of SCN4A and CLCN1 Mutations in a Family with Atypical Myotonic Features: A Clinical and Functional Study.

Veria Vacchiano,Raffaella Brugnoni,Carmen Campanale,Paola Imbrici,Giorgia Dinoi,Eleonora Canioni,Paola Laghetti,Ilaria Saltarella,Concetta Altamura,Lorenzo Maggi,Rocco Liguori,Vincenzo Donadio,Jean-Francois Desaphy

EXPERIMENTAL NEUROLOGY（2023）

Cited 3|Views31
Key words
Non-dystrophic myotonias,CLCN1,SCN4A,Next-generation sequencing,Patch clamp,mexiletine,lamotrigine
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