Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Abstract Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene). The resulting condition is dictated by the severity o...

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Bibliographic Details
Main Authors: Sarah Gerges, Rania Naoufal, Hicham Mansour
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Journal of Medical Case Reports
Subjects:
Online Access:https://doi.org/10.1186/s13256-025-05135-z
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