Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
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DOI: 10.3233/jnd-220798
Abstract: BACKGROUND The slow channel syndrome is a rare hereditary disorder caused by a dominant gain-of-function variant in one of the subunits of the acetylcholine receptor at the neuromuscular junction. Patients typically experience axial, limb and… read more here.
Keywords: slow channel; syndrome revisited; revisited years; channel syndrome ... See more keywords