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Sporadic cases in Duchenne muscular dystrophy
Authors:Antonella Russo  Guido Barbuiani  Maria Luisa Mostacciuolo  Falko H. Herrmann  Aribert W. J. Spiegler  Giuliana Galluzzi  Gian Antonio Danieli
Affiliation:(1) Insititute of Zoology, Via Borsari 46, I-44100 Ferrara, Italy;(2) Department of Biology, Via Trieste 75, I-35121 Padova, Italy;(3) Institut für Humangenetik, EMA Universität, Fleischmannstrasse 42, DDR-2200 Greifswald, German Democratic Republic;(4) Abteilung Medizinische Genetik, Medizinische Akademie, Klement-Gottwald-Strasse 34, DDR-508 Erfurt, German Democratic Republic;(5) Italian Muscular Dystrophy Association, Via San Crisogono 39, I-00153 Rome, Italy
Abstract:
Summary 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 (pgr), 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.
Keywords:
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