Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

doi:10.1136/jmg.29.2.127

Article

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Journal of medical genetics - 1 Feb 1992

Vitiello L, Mostacciuolo M L, Oliviero S, Schiavon F, Nicoletti L, Angelini C, Danieli G A

Abstract excerpt

Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of...

Topics

Adolescent
Adult
Base Sequence
Child
Chromosome Deletion
DNA
Dystrophin
Exons
Female
Genetic Testing
Humans
Italy
Male
Middle Aged
Molecular Sequence Data
Muscular Dystrophies
Mutation
Pedigree

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Abstract excerpt

Topics

Discuss the evidence