Acta Med. 2009, 52: 167-170

A Case of Manifesting Carrier with DMD Phenotype

Akshay Anand, Monika Vinish, Sudesh Prabhakar

Departments of Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Sector-12, Chandigarh, India

Received March 15, 2009
Accepted October 23, 2009

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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