Myotonia congenita is a hereditary muscle disease mainly characterized by muscle
hyperexcitability, which leads to a sustained burst of discharges that correlates with the …

Mutations in the ClC-1 muscle chloride channel cause either recessive or dominant
myotonia congenita. Using a systematic screening procedure, we have now identified four …

The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter
family. It is a homodimer comprising two individual pores which can operate independently …

Myotonia congenita is an inherited disease that is characterized by impaired muscle
relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 …

Key points Loss‐of‐function mutations of the skeletal muscle ClC‐1 channel cause myotonia
congenita with variable phenotypes. Using patch clamp we show that F484L, located in the …

Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an
inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle …

Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after
forceful contraction (myotonia) and caused by mutations in the chloride channel voltage …

The voltage-dependent ClC-1 chloride channel, whose open probability increases with
membrane potential depolarization, belongs to the superfamily of CLC …

Myotonia congenita is caused by mutation of the CLCN1 gene, which encodes the human
skeletal muscle chloride channel (ClC-1). The ClC-1 protein is a dimer comprised of two …

Key points• ClC channels are double‐barrelled channels with two ion conduction pathways
per individual channel.• Substituting cysteine 277 by serine constitutively opens the common …