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Duchenne型筋ジストロフィー症はその数の多さと重篤さにおいてもっとも重要な筋疾患である。本稿の目的は本症の遺伝学的知見を概観し,国療筋ジス施設の資料を中心として,わが国における実態と対策について述べることである。
Abstract
Duchenne dystrophy is a fatal degeneration of the skeletal muscles inherited X-linked recessively in about 90% of the Japanese cases, the rest being autosomal-recessive and relatively mild clinically. Genetic analyses with 514 probands disclosed; 1) X-linked recessive heredity, 2) new sporadic mutants in 1/3 of the cases, 3) equal mutation rate in the ova and the sperms with the estimated value of 6.3×10-5 per locus per generation, 4) incidence rate of 21.7×10-5 among newborn males and 5) prevalence rate of 5.0×10-5 and the estimated number of the surviving patients of about 2,430 in Japan.
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