Key result
A recurrent 14 bp deletion in the CLCN1 gene is associated with generalized myotonia (Becker).
Population
Patients with generalized myotonia (Becker)
Design
Other
Authors
Loading...
Supports inclusion in myotonia diagnostic panels; leaves open validation in independent cohorts.
Identifies a recurrent 14 bp deletion in the CLCN1 gene associated with Becker generalized myotonia.
Meyer-Kleine et al. (1994) studied this question. A recurrent 14 bp deletion in the CLCN1 gene is associated with generalized myotonia (Becker).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: