Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Human mutation - 1 Sept 2018
Altamura Concetta, Lucchiari Sabrina, Sahbani Dalila, Ulzi Gianna, Comi Giacomo P, D'Ambrosio Paola, Petillo Roberta, Politano Luisa, Vercelli Liliana, Mongini Tiziana, Dotti Maria Teresa, Cardani Rosanna, Meola Giovanni, Lo Monaco Mauro, Matthews Emma, Hanna Michael G, Carratù Maria Rosaria, Conte Diana, Imbrici Paola, Desaphy Jean-François
Abstract excerpt
Myotonia congenita (MC) is a skeletal-muscle hyperexcitability disorder caused by loss-of-function mutations in the ClC-1 chloride channel. Mutations are scattered over the entire sequence of the channel protein, with more than 30 mutations located in the poorly characterized cytosolic C-terminal domain. In this study, we characterized, through patch clamp, seven ClC-1 mutations identified in patients affected by...
Topics
- Adolescent
- Adult
- Amino Acids
- Chloride Channels
- DNA Mutational Analysis
- Female
- Humans
- Ion Channel Gating
- Male