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A case of manifesting carrier with DMD phenotype
Akshay Anand1, Monika Vinish, Sudesh Prabhakar
1Department of Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Sector-12, Chandigarh, India.
Abstract:
A case of a 35-year old female with a history of proximal weakness in lower limbs and bulkiness of both calves manifesting before ten years of age was reported. Clinical findings were suggestive of muscular dystrophy. Genetic analysis using polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and direct sequencing revealed several point mutations, which account for dystrophin dysfunction and DMD type pathogenesis.
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