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Analysis of deletions and their relationship with clinical severity, family recurrence, and intelligence in Duchenne and Becker Muscular Dystrophy patients from Southern Brazil

Clarice S. Alho^I; Francisco M. Salzano^I; Mayana Zatz^II

^IDepartamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brasil. Send correspondence to F.M.S.
^IIDepartamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05422-970 São Paulo, SP, Brasil

ABSTRACT

A total of 50 patients affected by Duchenne (DMD) or Becker (BMD) dystrophies from 41 unrelated families was investigated for deletions in the muscular promotor and in 13 exons located at two hot spots of the dystrophin gene. Twenty of the 41 probands presented deletions. None occurred at the muscular promotor, but at least two were observed in each of the exons studied. The patient with the largest identified deletion (exons 12-44) showed a mild Duchenne muscular dystrophy (DMD) clinical picture only. Three of the deletions in patients with severe DMD, and one in those with moderate DMD clearly disrupted the reading frame. No clear relationship could be inferred in the comparisons between types of deletions versus (a) disease severity, (b) sporadic and familial cases, and (c) intelligence levels.

Keywords: deletions; clinical severity; family recurrence; Duchenne Muscular Dystrophy; Becker Muscular Dystrophy.

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