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Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

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Abstract

Congenital muscular dystrophy (CMD) is a heterogenous disease with autosomic recessive transmission. In an epidemiological study in four provinces of Veneto (region of 2586830 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 6.8 × 10−6. 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.

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Correspondence to Maria L. Mostacciuolo.

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Mostacciuolo, M.L., Miorin, M., Martinello, F. et al. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 97, 277–279 (1996). https://doi.org/10.1007/BF02185752

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Keywords

  • Internal Medicine
  • Epidemiological Study
  • Incidence Rate
  • Prevalence Rate
  • Metabolic Disease