CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Evidence accumulated over recent years has shown that genetic neurological
channelopathies can cause many different neurological diseases. Presentations relating to …

Abstract See Cannon (doi: 10.1093/brain/awv400) for a scientific commentary on this article.
Congenital myopathies are a clinically and genetically heterogeneous group of muscle …

Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTGexp) disorder
caused by expression of CUGexp RNAs. These mutant RNAs alter the activities of RNA …

The specific role of the chloride anion (Cl−) as a signalling effector or second messenger
has been increasingly recognized in recent years. It could represent a key factor in the …

Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias
and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive …

In 1970, the study of the pathomechanisms underlying myotonia in muscle fibers isolated
from myotonic goats highlighted the importance of chloride conductance for skeletal muscle …

Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM),
periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital …

Myotonic dystrophy (DM) is a multisystemic disorder caused by microsatellite expansion
mutations in two unrelated genes leading to similar, yet distinct, diseases. DM disease …

Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by
episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre …