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Article

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

Human genetics - 1 May 1990

Barbujani G, Russo A, Danieli G A, Spiegler A W, Borkowska J, Petrusewicz I H

Abstract excerpt

The proportion of sporadic cases of Duchenne muscular dystrophy has been estimated by classical segregation analysis in a pooled sample of 1885 sibships from 7 different countries. A significant departure from the theoretical expectations based on mutation-selection equilibrium is observed (segregation frequency = 0.439 +/- 0.017; frequency of sporadic cases = 0.229 +/- 0.026, at the maximum likelihood). The...

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Source

Identifiers

PMID: 2338336
DOI: 10.1007/BF00210802

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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