THE NATURAL-HISTORY OF CONGENITAL MYOTONIC-DYSTROPHY - MORTALITY AND LONG-TERM CLINICAL ASPECTS

被引：97

作者：

REARDON, W

NEWCOMBE, R

FENTON, I

SIBERT, J

HARPER, PS

机构：

[1] UNIV WALES COLL MED,INST MED GENET,CARDIFF CF4 4XN,S GLAM,WALES

[2] UNIV WALES COLL CARDIFF,LANSDOWNE HOSP,COLL MED,DEPT CHILD HLTH,COMMUNITY HLTH UNIT,CARDIFF CF1 3NS,S GLAM,WALES

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1993年 / 68卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/adc.68.2.177

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Although the genetic basis of the congenital form of myotonic dystrophy has recently been clarified, data as to outcome in terms of life expectancy and morbidity are scanty. Life table data based on a cohort of 115 patients with a confirmed diagnosis of congenital myotonic dystrophy are presented. The data suggest a 25% chance of death before 18 months of age and a 50% chance of survival into the mid-30s. The profile of disease and complications among survivors is also charted.

引用

页码：177 / 181

页数：5

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