意大利东北部一个样本中先天性肌营养不良的遗传流行病学
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy.
作者信息
Mostacciuolo M L, Miorin M, Martinello F, Angelini C, Perini P, Trevisan C P
机构信息
Laboratorio di Genetica Umana, Dipartimento di Biologia, Università diPadova, Italy.
出版信息
Hum Genet. 1996 Mar;97(3):277-9. doi: 10.1007/BF02185752.
Congenital muscular dystrophy (CMD) is a heterogeneous disease with autosomic recessive transmission. In an epidemiological study in four provinces of Veneto (region of 2 586 830 inhabitants in north-east Italy), the recorded incidence rate for the period 1979-1993 was 4.65 x 10(-5); the prevalence rate in the year 1993 was 6.8x10(-6). The incidence and the prevalence rates that we have obtained during the course of our investigation represent the first estimates for CMD in Europe and show that this myopathy is among the most frequent neuromuscular diseases with autosomic recessive transmission.
先天性肌营养不良（CMD）是一种具有常染色体隐性遗传的异质性疾病。在一项针对威尼托大区（意大利东北部一个拥有2586830名居民的地区）四个省份的流行病学研究中，1979年至1993年期间记录的发病率为4.65×10⁻⁵；1993年的患病率为6.8×10⁻⁶。我们在调查过程中获得的发病率和患病率是欧洲对CMD的首次估计，表明这种肌病是常染色体隐性遗传的最常见神经肌肉疾病之一。
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