title: A case of manifesting carrier with DMD phenotype.
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.
authors.affiliation: Department of Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Sector-12, Chandigarh, India.
authors.forename: Akshay
authors.initials: A
authors.lastname: Anand
authors.forename: Monika
authors.initials: M
authors.lastname: Vinish
authors.forename: Sudesh
authors.initials: S
authors.lastname: Prabhakar
mesh_terms: D000328:Adult; D002648:Child; D016189:Dystrophin / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin