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常染色体隐性遗传性远端肌病

Autosomal recessive distal myopathy.

作者信息

Isaacs H, Badenhorst M E, Whistler T

机构信息

Department of Physiology, Witwatersrand University Medical School, Johannesburg, South Africa.

出版信息

J Clin Pathol. 1988 Feb;41(2):188-94. doi: 10.1136/jcp.41.2.188.

Abstract

Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of recessive distal dystrophy.

摘要

对5例患有常染色体隐性遗传的远端肌病患者进行了研究。其中,3例来自同一个同胞家族。研究包括肌电图检查、肌肉组织的组织学检查、组织化学、电子显微镜和生化分析。其中1例病例类似于野中(Nonaka)型,而其他病例被认为是较常见的隐性远端肌营养不良症的表现形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eb4/1141376/b82c3c41a579/jclinpath00334-0072-a.jpg

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