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Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.

Experimental neurology - 1 Apr 2023

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

Abstract excerpt

Non-dystrophic myotonias include several entities with possible clinical overlap, i.e. myotonia congenita caused by CLCN1 gene mutations, as well as paramyotonia congenita and sodium channel myotonia caused by SCN4A gene mutations. Herein, we describe the clinical features of five relatives affected by clinical and neurophysiological myotonia, with an aspecific and mixed phenotype. Next-generation sequencing...

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PMID: 36720299
DOI: 10.1016/j.expneurol.2023.114342

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