Key result
Recessive generalized myotonia presents with post-rest muscle weakness, contractures, and reduced membrane excitability.
Population
3 patients afflicted with recessive generalized myotonia
Design
Case_series
Authors
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May aid variant recognition in myotonia; hypothesis-generating and requires validation in larger cohorts.
Case Report (n=3)
The study describes the clinical and electrophysiological phenotype of recessive generalized myotonia in a consanguineous family, highlighting marked reduction in muscle membrane excitability after rest.
Sun et al. (1983) conducted a case report in Recessive generalized myotonia (RGMy) (n=3). Recessive generalized myotonia was evaluated on Clinical and electrophysiological characteristics. Three related patients with recessive generalized myotonia exhibited muscle weakness prominent after rest, muscular contractures, and marked reduction in muscle membrane excitability.
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