EPIDEMIOLOGY OF SPINAL MUSCULAR ATROPHIES IN A SAMPLE OF THE ITALIAN POPULATION

被引：36

作者：

MOSTACCIUOLO, ML ^{[1
]}

DANIELI, GA ^{[1
]}

TREVISAN, C ^{[1
]}

MULLER, E ^{[1
]}

ANGELINI, C ^{[1
]}

机构：

[1] UNIV PADUA,DEPT NEUROL,I-35100 PADUA,ITALY

来源：

NEUROEPIDEMIOLOGY | 1992年 / 11卷 / 01期

关键词：

SPINAL MUSCULAR ATROPHY; ALLELIC MUTATION; HETEROZYGOTE;

D O I：

10.1159/000110905

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

In the course of an epidemiological survey in four provinces of Veneto (northeastern Italy) 67 spinal muscular atrophy (SMA) cases (types I, II and III) were recorded. The survey spanned the period 1960-1983 and involved 859,891 consecutive live-born infants in a population of 2,635.800 inhabitants. The overall prevalence at birth for SMA types I, II and III was 7.8/100,000 live births. Type I alone accounted for 4.1/100,000 live births. If the hypothesis that SMA types I, II and III are clinical manifestations of allelic mutations is assumed, the mutation rate would be about 70 X 10-6 and the frequency of the heterozygotes 1 in 57.

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页码：34 / 38

页数：5

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