Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy

Journal Article · Tue Mar 01 00:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320500118· OSTI ID:86551

Mostacciuolo, M L; Miorin, M; Vitiello, L; Rampazzo, A; Fanin, M; Angelini, C; Danieli, G A ^[1]

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1. 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, Vol. 50, Issue 1; Other Information: PBD: 1 Mar 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENE MUTATIONS
DETECTION
MUSCLES
HEREDITARY DISEASES
NERVOUS SYSTEM DISEASES
ETIOLOGY
HUMAN X CHROMOSOME