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Article

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

Neurogenetics - 1 Dec 2017

Maggi Lorenzo, Ravaglia Sabrina, Farinato Alessandro, Brugnoni Raffaella, Altamura Concetta, Imbrici Paola, Camerino Diana Conte, Padovani Alessandro, Mantegazza Renato, Bernasconi Pia, Desaphy Jean-François, Filosto Massimiliano

Abstract excerpt

Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28993909
DOI: 10.1007/s10048-017-0525-5

Genes

CLCN1

Variants

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