CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
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DOI: 10.3389/fneur.2020.00063
Abstract: Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According to… read more here.
Keywords: type myotonia; myotonia congenita; becker; myotonia ... See more keywords