[低渗新生儿的基因诊断]
[Genetic diagnosis of the hypotonic newborn].
作者信息
Bauer M S
机构信息
División de Genètica, Miami Children's Hospital, Florida 33155, USA.
出版信息
Rev Neurol. 1997 May;25(141):703-6.
PMID:9206594
Abstract
Assessment of hypotonic newborn babies implies not only neurological studies, but; also new methods of molecular genetics, to reach a diagnosis of the aetiology. The Prader-Willi, Werdnig-Hoffmann and Myotonic Dystrophy syndromes are three conditions with neurological symptoms which have recently been defined at a molecular level.
摘要
对低渗性新生儿的评估不仅意味着进行神经学研究，还意味着采用分子遗传学的新方法来确诊病因。普拉德-威利综合征、韦尔尼克-霍夫曼综合征和强直性肌营养不良综合征是三种有神经症状的病症，最近已在分子水平上得到明确界定。
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