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Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

作者信息

Salih M A, Omer M I, Bayoumi R A, Karrar O, Johnson M

出版信息

Dev Med Child Neurol. 1983 Feb;25(1):43-52. doi: 10.1111/j.1469-8749.1983.tb13720.x.

Abstract

The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to that of Duchenne MD and pseudohypertrophy was a remarkable feature. Both sexes became completely dependent by 16 years, and died at or before 20 years of age. The clinical picture in this family and the histological features are compared with those of Duchenne MD and with cases reported from Tunisia, Qatar and Libya. Certain clinical and histological features distinguish all of these types from each other and from the milder autosomal recessive MD of childhood which is more usual in the United Kingdom, Europe, Australia and North America.

摘要

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