myotonia fluctuans


myotonia fluctuans
a rare autosomal dominant myotonia characterized by fluctuating degrees of muscle stiffness, aggravated by potassium intake, but not associated with muscle weakness. Like myotonia permanens and several other disorders, it is due to mutation in the SCNA4A gene (locus: 17q23.1-q25.3), which encodes a subunit of a voltage-gated sodium channel.

Medical dictionary. 2011.

Look at other dictionaries:

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