myotonia congenita

(redirected from Congenital myotonia)
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Related to Congenital myotonia: Thomsen disease
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Synonyms for myotonia congenita

a mild, rare, congenital form of myotonia characterized by muscle stiffness

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References in periodicals archive ?
The patient was a 59-year man suffering from congenital myotonia (patient MI-2).
Mutations in CLCN1 gene have been shown to cause congenital myotonia.
In brief, we demonstrated a new missense mutation in CLCN1 gene in a patient with congenital myotonia.
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