PREVALENCE OF TYPE-I SPINAL MUSCULAR-ATROPHY IN NORTH-DAKOTA

被引：28

作者：

BURD, L

SHORT, SK

MARTSOLF, JT

NELSON, RA

机构：

[1] UNIV N DAKOTA,CTR TEACHING & LEARNING,GRAND FORKS,ND 58201

[2] UNIV N DAKOTA,SCH MED,DEPT MED GENET,GRAND FORKS,ND 58201

[3] UNIV N DAKOTA,SCH MED,DEPT PEDIAT,GRAND FORKS,ND 58201

[4] UNIV N DAKOTA,SCH MED,DEPT NEUROSCI,GRAND FORKS,ND 58201

[5] UNIV N DAKOTA,REHABIL HOSP & CLIN,CHILD EVALUAT & TREATMENT PROGRAM,GRAND FORKS,ND 58201

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 02期

关键词：

WERDNIG-HOFFMANN DISEASE; CHILDREN; MUSCLE DISEASE;

D O I：

10.1002/ajmg.1320410216

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In order to establish the incidence and prevalence of type I spinal muscular atrophy (SMA Werdnig-Hoffmann disease) in North Dakota, we reviewed the death certificates for the past 8 years. Between 1980 and 1987 the prevalence of was 1.5 per 10,000. The incidence was 1 in 6,720. This suggests a carrier frequency of 1 in 41 in North Dakota with a gene frequency of 0.0122. In North Dakota, type I spinal muscular atrophy appears to be 3 to 10 times more common than in other locations.

引用

页码：212 / 215

页数：4

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