[先天性肌强直性营养不良。诊断难点]
[Congenital myotonic dystrophy. Diagnostic difficulties].
作者信息
Dalphin M L, Noir A, Monnier G, Menget A
机构信息
Service de pédiatrie, CHU, Besançon, France.
出版信息
Pediatrie. 1992;47(10):677-80.
PMID:1337591
Abstract
Congenital myotonic dystrophy is the neonatal form of Steinert myotonia. It is particularly severe when the mother carries the gene. The diagnosis is made after finding the myotonia in the mother. Prenatal diagnosis can be made by researching the Steinert's disease gene by fetal DNA analysis.
摘要
先天性肌强直性营养不良是斯坦纳特肌强直的新生儿形式。当母亲携带该基因时，病情尤为严重。在母亲身上发现肌强直后即可做出诊断。产前诊断可通过对胎儿DNA进行分析来检测斯坦纳特病基因。
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