杜兴氏型肌营养不良与近亲结婚：系谱分析中的困难。

Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

作者信息

Aymé S, Pelissier J F, Garnier J M, Mattei J F, Giraud F

出版信息

J Med Genet. 1979 Oct;16(5):393-5. doi: 10.1136/jmg.16.5.393.

DOI:10.1136/jmg.16.5.393

PMID:513086

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012617/

Abstract

We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree.

摘要

我们报告了一名2岁女童的病例，该女童在临床、肌电图、实验室和病理检查中均表现出杜氏型肌营养不良的症状。患儿的父母是近亲结婚。患儿母亲的一个兄弟和一个侄子也患有杜氏型肌营养不良。先证者的核型分析显示两条X染色体在形态上均正常。患儿母亲的血浆肌酸激酶（CK）水平非常高，与该病携带者的水平相当。我们讨论了旨在解释该家族谱系的不同假设机制。