Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected show stiffness and pain sometimes. The two major types of congenita are known as Thomsen disease Becker disease. These conditions distinguished by the severity their symptoms patterns inheritance. causative factor mutations in CLCN1 gene. Myotonia rarely reported black especial...

1. ClC-1 is a Cl- channel in mammalian skeletal muscle that plays an important role in membrane repolarization following muscular contraction. Reduction of ClC-1 conductance results in myotonia, a state characterized by muscle hyperexcitability. 2. As is the case for other members of the ClC family, ClC-1 exists as a dimer that forms a double-barrelled channel. Each barrel, or pore, of ClC-1 is...

The effect of intracellular adenosine triphosphate (ATP) on the "common gating" of the CLC-1 chloride channel has been studied by several laboratories with controversial results. Our previous study on the channel expressed in Xenopus oocytes using excised inside-out patch-clamp methods showed a robust effect of ATP in shifting the open probability curve of the common gate toward more depolarizi...

We describe the case of a six year old boy with findings consistent with myotonia congenita: muscular hypertrophy, stiffness when commencing movements and typical warm-up signs. The most prominent symptom was myotonia of the eyelid muscles with apparent swelling around the eyes. Even though the pronounced warm-up phenomena in our patient suggested a chloride channel-associated myotonia congenit...

We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exercise-induced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis. It is ...

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using...