Why the study?
What is the prevalence of genetically defined skeletal muscle channelopathies in England?
What is the prevalence of genetically defined skeletal muscle channelopathies in England?
This study provides the first overall prevalence data for genetically defined skeletal muscle channelopathies in England, highlighting that a few mutations account for most cases.
Supports targeted genetic testing; extends prevalence data but leaves generalizability open.
We describe for the first time the overall prevalence of genetically defined skeletal muscle channelopathies in England. Despite the large variety of mutations observed in patients with nondystrophic myotonia and ATS, a limited number accounted for a large proportion of cases.
No takes yet. Share an insight, caveat, or question.
Horga et al. (2013) studied this question.