Literature DB >> 8292871

Analysis of dystrophin gene deletions in patients from the Mexican population with Duchenne/Becker muscular dystrophy.

R Coral-Vázquez1, D Arenas, B Cisneros, L Peñaloza, S Kofman, F Salamanca, C Montañez.   

Abstract

Forty unrelated Mexican patients with Duchenne/Becker muscular dystrophy were analyzed for intragenic DMD gene deletions, using the multiplex amplification of 15 deletion-prone exons described by Chamberlain et al. and Beggs et al. The percentage of deletions was 52.5%, and the majority of them (86.3%) were located at the hot spot deletion region which encompasses exons 44-55. This frequency is higher than that found in American and European populations. There were no correlations between deletion size, location and clinical severity.

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Year:  1993        PMID: 8292871

Source DB:  PubMed          Journal:  Arch Med Res        ISSN: 0188-4409            Impact factor:   2.235


  2 in total

1.  In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse.

Authors:  Yoshitsugu Aoki; Akinori Nakamura; Toshifumi Yokota; Takashi Saito; Hitoshi Okazawa; Tetsuya Nagata; Shin'ichi Takeda
Journal:  Mol Ther       Date:  2010-09-07       Impact factor: 11.454

2.  The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.

Authors:  Glen B Banks; Luke M Judge; James M Allen; Jeffrey S Chamberlain
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

  2 in total

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