October 1, 1996Neurology
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
Population
18 consecutive myotonia congenita (MC) probands
Design
Case_series
Authors
Discussion
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Member takes
Implication
Novel CLCN1 mutation does not change myotonia congenita management; extends mutational spectrum and leaves open need for validation studies.
Structured PICO
P
Population
18 consecutive myotonia congenita (MC) probands
I
Intervention
Genetic screening of the skeletal muscle voltage-gated chloride channel gene (CLCN1)
O
Outcome
Mutations in the CLCN1 gene
Identification of a novel nonsense mutation and phenotypic variations in known mutations in the CLCN1 gene expands the genetic understanding of myotonia congenita.
Cite This Study
Zhang et al. (1996) studied this question.