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患有肌肉萎缩症的女孩。

Girls with muscular dystrophy.

作者信息

Reddy B K, Kumari C K, Reddy M V, Reddi O S

出版信息

Acta Anthropogenet. 1984;8(3-4):209-16.

PMID:6545753
Abstract

Clinical and genetic studies were made on progressive muscular dystrophy in eight young girls. No chromosomal abnormality was observed in these patients and their mothers. The pedigrees of six cases suggested an autosomal recessive inheritance and clinical features were identical with those of Duchenne muscular dystrophy. Two other cases were compatible with childhood muscular dystrophy with autosomal recessive inheritance.

摘要

对8名年轻女孩的进行性肌营养不良症进行了临床和遗传学研究。在这些患者及其母亲中未观察到染色体异常。6例的系谱提示为常染色体隐性遗传,临床特征与杜兴氏肌营养不良症相同。另外2例符合常染色体隐性遗传的儿童期肌营养不良症。

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