Key result
Among 11 female dystrophinopathy carriers, 4 were symptomatic, typically presenting with asymmetric bilateral leg weakness that aggravated after labor, and markedly elevated serum creatine kinase levels.
Population
11 female dystrophinopathy carriers identified from 285 patients screened for dystrophin gene mutations at a…
Design
Cohort
Authors
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May prompt MLPA evaluation in select women with post-labor weakness; extends carrier phenotype data but leaves open broader screening.
Observational (n=11)
No
Female dystrophinopathy carriers can present with asymmetric bilateral leg weakness that may be aggravated after labor, highlighting the importance of MLPA screening for early diagnosis.
Lee et al. (2015) conducted an observational in Female dystrophinopathy carriers (n=11). Dystrophin gene mutation (carrier status) was evaluated on Clinical and genetic characteristics. Among 11 female dystrophinopathy carriers, 4 were symptomatic, typically presenting with asymmetric bilateral leg weakness that aggravated after labor, and markedly elevated serum creatine kinase levels.
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