Literature DB >> 1427789

Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.

S Niemann-Seyde1, R Slomski, F Rininsland, U Ellermeyer, J Kwiatkowska, J Reiss.   

Abstract

A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.

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Year:  1992        PMID： 1427789     DOI： 10.1007/bf00210746

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  25 in total

1.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Authors:  E Bakker; H Veenema; J T Den Dunnen; C van Broeckhoven; P M Grootscholten; E J Bonten; G J van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

2.  Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

Authors:  T Ried; V Mahler; P Vogt; L Blonden; G J van Ommen; T Cremer; M Cremer
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

4.  Identification of a new DMD gene deletion by ectopic transcript analysis.

Authors:  F Rininsland; A Hahn; S Niemann-Seyde; R Slomski; F Hanefeld; J Reiss
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

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

Authors:  G Barbujani; A Russo; G A Danieli; A W Spiegler; J Borkowska; I H Petrusewicz
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

6.  Gene deletions in X-linked muscular dystrophy.

Authors:  M Lindlöf; A Kiuru; H Kääriäinen; H Kalimo; H Lang; H Pihko; J Rapola; H Somer; M Somer; M L Savontaus
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

7.  The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Authors:  M Koenig; A P Monaco; L M Kunkel
Journal:  Cell       Date:  1988-04-22       Impact factor: 41.582

8.  Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.

Authors:  M Hentemann; J Reiss; M Wagner; D N Cooper
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

9.  Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

Authors:  S Abbs; R G Roberts; C G Mathew; D R Bentley; M Bobrow
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

10.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736
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  5 in total

1.  Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.

Authors:  H Yamagishi; S Kato; Y Hiraishi; T Ishihara; J Hata; N Matsuo; T Takano
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

2.  Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Authors:  Andrew R Findlay; Nicolas Wein; Yuuki Kaminoh; Laura E Taylor; Diane M Dunn; Jerry R Mendell; Wendy M King; Alan Pestronk; Julaine M Florence; Katherine D Mathews; Richard S Finkel; Kathryn J Swoboda; Michael T Howard; John W Day; Craig McDonald; Aurélie Nicolas; Elisabeth Le Rumeur; Robert B Weiss; Kevin M Flanigan
Journal:  Ann Neurol       Date:  2015-03-02       Impact factor: 10.422

3.  The rates and patterns of deletions in the human factor IX gene.

Authors:  R P Ketterling; E L Vielhaber; T J Lind; E C Thorland; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

4.  Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.

Authors:  F Rininsland; J Reiss
Journal:  Hum Genet       Date:  1994-08       Impact factor: 4.132

Review 5.  Dilated cardiomyopathy and the dystrophin gene: an illustrated review.

Authors:  A Oldfors; B O Eriksson; M Kyllerman; T Martinsson; J Wahlström
Journal:  Br Heart J       Date:  1994-10
  5 in total

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