Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene.
作者信息
Ohya K, Tachi N, Chiba S, Sato T, Kon S, Kikuchi K, Imamura S, Yamagata H, Miki T
机构信息
Department of Pediatrics, Sapporo Medical University School of Medicine, Japan.
出版信息
Neurology. 1994 Oct;44(10):1958-60. doi: 10.1212/wnl.44.10.1958.
PMID:7936256
Abstract
We present the first report of paternal transmission of congenital myotonic dystrophy (DM). The patients had typical congenital DM and showed unstable CTG repeats on Southern blot analysis. The mother had no expansion of the DM gene, but the asymptomatic father had minimal expansion of the CTG repeats.
摘要
Zotero 插件