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Sporadic cases in Duchenne muscular dystrophy

✍ Scribed by Antonella Russo; Guido Barbuiani; Maria Luisa Mostacciuolo; Falko H. Herrmann; Aribert W. J. Spiegler; Giuliana Galluzzi; Gian Antonio Danieli

Book ID: 104703974
Publisher: Springer
Year: 1987
Tongue: English
Weight: 648 KB
Volume: 76
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00283613

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✦ Synopsis

A new estimation of the proportion of sporadic cases in Duchenne muscular dystrophy was attempted by means of segregation analysis in a sample of 988 sibships collected on a world-wide scale by different authors. Maximum likelihood estimates of ascertainment probability (pi), segregation frequency (p), and frequency of sporadic cases (x) were calculated by Morton's equations under different hypotheses. The best fit was found for p = 0.454 +/- 0.024 and x = 0.235 +/- 0.034. The possibility that the proportion of sporadic cases might be lower than the expected 1/3 is suggested.

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