Mtotonia congenita is caharcetrized by impaired relaxation after contraction, resulting in muscle stiffness. Here we report the functional study new missense mutations found in patients with recessive myotonia congenita.
Ion channels gene expression analysis in myotonia congenita patients carrying ClC-1 chloride channel mutations
Altamura C.;CAMERINO, GIULIA MARIA;IMBRICI, Paola;DESAPHY, Jean Francois;Conte Camerino D.
2015-01-01
Abstract
Mtotonia congenita is caharcetrized by impaired relaxation after contraction, resulting in muscle stiffness. Here we report the functional study new missense mutations found in patients with recessive myotonia congenita.File in questo prodotto:
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