Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Mutations in the ryanodine receptor type 1 (RYR1) gene are amongst the most common causes of early-onset, non-dystrophic neuromuscular disorders. RYR1 mutations have also anecdotally been implicated in non-skeletal muscle symptoms such as an increased bleeding tendency particularly prominent in females, but the prevalence of these features is currently unknown. In this questionnaire-based study, we aimed to evaluate smooth muscle function, bleeding, obstetric, and gynaecological outcomes in RYR1-variant carrying females.