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 1;155(4):118-130.
doi: 10.12871/000398292017410.
Authors
Rosangela Ferese
1
,
Veronica Albano
,
Mattia Falconi
,
Federico Iacovelli
,
Rosa Campopiano
,
Simona Scala
,
Anna Maria Griguoli
,
Anderson Gaglione
,
Emiliano Giardina
,
Stefania Zampatti
,
Marianna Storto
,
Francesco Fornai
,
Carmelo D'Alessio
,
Giuseppe Novelli
,
Stefano Gambardella
Affiliation
1
I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli (IS), Italy - Email: stefano.gambardella@neuromed.it.
PMID:
29405036
DOI:
10.12871/000398292017410
No abstract available
Publication types
Case Reports
MeSH terms
Chloride Channels / chemistry*
Chloride Channels / genetics*
Humans
Male
Middle Aged
Mutation
Myotonia Congenita / genetics*
Protein Structure, Quaternary
Substances
CLC-1 channel
Chloride Channels