Abstract
We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.
Copyright © 2011 Elsevier B.V. All rights reserved.
MeSH terms
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Acetazolamide / therapeutic use
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Adult
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Age of Onset
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Aged
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Aged, 80 and over
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Amitriptyline / therapeutic use
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Anticonvulsants / therapeutic use
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Belgium
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Carbamazepine / therapeutic use
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Cold Temperature / adverse effects*
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Electromyography
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Female
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Humans
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Male
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Middle Aged
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Mutation / genetics*
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Myotonia / epidemiology*
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Myotonia / etiology
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Myotonia / genetics*
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NAV1.4 Voltage-Gated Sodium Channel
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Pain / epidemiology*
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Pain / etiology
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Pain / genetics*
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Phenotype
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Sodium Channels / genetics*
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Treatment Outcome
Substances
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Anticonvulsants
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NAV1.4 Voltage-Gated Sodium Channel
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SCN4A protein, human
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Sodium Channels
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Amitriptyline
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Carbamazepine
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Acetazolamide