Duchenne's muscular dystrophy in monozygotic twins.
نویسندگان
چکیده
Five-year-old twin boys were admitted to our hospital with history of progressive difficulty in walking, climbing stairs and frequent falls. There was delay in the attainment of motor milestones. Both boys had bilateral calf muscle hypertrophy with weakness of proximal muscles of lower and upper limbs. Serum creatinine kinase levels were grossly elevated (>11,000 IU/L) in both boys, and muscle biopsy showed dystrophic changes. DNA analysis for mutation detection in the dystrophin gene revealed intragenic deletion of exons 45-48 in both children. The monozygosity was confirmed by DNA analysis. Mother’s CPK level was within REFERENCES
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عنوان ژورنال:
- Indian pediatrics
دوره 41 3 شماره
صفحات -
تاریخ انتشار 1984