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Article

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.

Journal of the neurological sciences - 15 Jul 2012

Ulzi Gianna, Lecchi Marzia, Sansone Valeria, Redaelli Elisa, Corti Eleonora, Saccomanno Domenica, Pagliarani Serena, Corti Stefania, Magri Francesca, Raimondi Monika, D'Angelo Grazia, Modoni Anna, Bresolin Nereo, Meola Giovanni, Wanke Enzo, Comi Giacomo P, Lucchiari Sabrina

Abstract excerpt

Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane. We describe 12 novel mutations: c.1606G>C (p.Val536Leu), c.2533G>A (p.Gly845Ser), c.2434C>T (p.Gln812X), c.1499T>G...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22521272
DOI: 10.1016/j.jns.2012.03.024

Genes

CLCN1

Variants

Provenance

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Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.PMID 22521272Read ↗

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Novel CLCN1 mutations with unique clinical and electrophysiological consequences.Semantic proximity Read ↗

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Myotonia congenita.Semantic proximity Read ↗

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