Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Padua (Italy)
The occurrence of 2 different intragenic deletions (exons 10-44 and exon 45, respectively) is reported in 2 male relatives affected with Duchenne muscular dystrophy, both showing the same haplotype for DNA markers not included in the deleted segment. The 2 different deletions seem to have occurred independently in the same X chromosome. This finding, together with other reports, suggests possibly an increased predisposition to mutations within the DMD locus in some families. Therefore, when dealing with prenatal diagnosis, the investigation on fetal DNA cannot be restricted only to the region in which a mutation was previously identified in the family. 14 refs., 1 fig.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 86551
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 50; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy
Relatively low proportion of dystrophin gene deletions in Israeili Duchenne and Becker muscular dystrophy patients
Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: Deletion detection and familial diagnosis
Journal Article
·
Tue Jan 24 23:00:00 EST 1989
· Nucleic Acids Research; (UK)
·
OSTI ID:5190824
Relatively low proportion of dystrophin gene deletions in Israeili Duchenne and Becker muscular dystrophy patients
Journal Article
·
Mon Feb 14 23:00:00 EST 1994
· American Journal of Medical Genetics
·
OSTI ID:95922
Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: Deletion detection and familial diagnosis
Journal Article
·
Sun Nov 05 23:00:00 EST 1995
· American Journal of Medical Genetics
·
OSTI ID:443807