We report an isolated case of a girl aged three years six months with Duchenne muscular
dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed
no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin
antibody in combination with immunofluorescence, was nearly completely absent. In
this sporadic case of female muscular dystrophy, the identification of dystrophin-deficient
muscle fibers made it possible to establish an accurate diagnosis of DMD affected
female.
Duchenne muscular dystrophy - Female - Dystrophin deficiency
