Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Arch Ital Biol. 2017 Dec 01;155(4):118-130
Authors: Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S
PMID: 29405036 [PubMed - in process]

Source: Archives Italiennes de Biologie - February 7, 2018 Category: Neuroscience Tags: Arch Ital Biol Source Type: research