Article
A case of manifesting carrier with DMD phenotype.
Acta medica (Hradec Kralove) - 1 Jan 2009
Anand Akshay, Vinish Monika, Prabhakar Sudesh
Abstract excerpt
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...
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