A case of manifesting carrier with DMD phenotype.
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.
Anand
Akshay
A
Department of Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Sector-12, Chandigarh, India.
Vinish
Monika
M
Prabhakar
Sudesh
S
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
D016189:Dystrophin