Literature DB >> 1978985

Somatic mosaicism at the Duchenne locus.

R V Lebo1, R K Olney, M S Golbus.   

Abstract

Results of testing a family for carrier status and prenatal diagnosis for Duchenne muscular dystrophy (DMD) are best explained by somatic mosaicism in the maternal grandfather. This genetic situation was identified using segregation analysis of intragenic DNA polymorphisms, a serum creatine phosphokinase assay, and physical examination of the patients. This event at the DMD locus represents one more potential source of error in carrier testing and prenatal diagnosis.

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Year:  1990        PMID： 1978985     DOI： 10.1002/ajmg.1320370206

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

1.  Germinal mosaicism and risk calculation in X-linked diseases.

Authors:  M Jeanpierre
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.

Authors:  D J Bunyan; D O Robinson; A L Collins; A E Cockwell; H M Bullman; P A Whittaker
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

4.  Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy.

Authors:  T Voit; E Neuen-Jacob; V Mahler; A Jauch; M Cremer
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

5.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

6.  Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Authors:  A J van Essen; S Abbs; M Baiget; E Bakker; C Boileau; C van Broeckhoven; K Bushby; A Clarke; M Claustres; A E Covone
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

7.  Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Authors:  M R Passos-Bueno; E Bakker; A L Kneppers; R I Takata; D Rapaport; J T den Dunnen; M Zatz; G J van Ommen
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

8.  Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy.

Authors:  M Uchino; M Tokunaga; T Yamashita; S Mita; A Hara; E Uyama; H Teramoto; H Naoe; M Ando
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088
  8 in total

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