Muscle channelopathies: recent advances in genetics, pathophysiology and therapy

K Suetterlin, R Männikkö… - Current opinion in …, 2014 - journals.lww.com
Current opinion in neurology, 2014journals.lww.com
Advances in genetic, clinical, diagnostic and pathomechanistic understanding of skeletal
muscle channelopathies are being translated into improved therapies. Mexiletine is the first
evidence-based treatment for nondystrophic myotonias. Bumetanide is effective in
preventing attacks in mouse models of hypokalaemic periodic paralysis and now needs to
be tested in patients.
Summary
Advances in genetic, clinical, diagnostic and pathomechanistic understanding of skeletal muscle channelopathies are being translated into improved therapies. Mexiletine is the first evidence-based treatment for nondystrophic myotonias. Bumetanide is effective in preventing attacks in mouse models of hypokalaemic periodic paralysis and now needs to be tested in patients.
Lippincott Williams & Wilkins
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