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Study reveals mechanisms that cause muscle weakness in patients with Becker disease
Muscle weakness in patients with Becker disease is caused by unusual electrical activity in muscle fibres termed plateau potentials that make them temporarily inactive, says a study published today in
eLife.
An understanding of these mechanisms and the ion channels involved may help the search for more effective therapies for weakness in Becker disease and other muscle diseases, and help understand how electrical activity is regulated in muscles.
Recessive myotonia congenita, also known as Becker disease, is a heritable skeletal muscle disease caused by mutated chloride channels in the muscles that do not work properly. People with the condition experience a phenomenon called myotonia whereby the muscles are hyperexcitable, meaning they are more sensitive than usual to activation. This results in stiff muscles that struggle to relax after being used.