Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Article

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

American journal of human genetics - 1 Apr 1990

Hu X Y, Ray P N, Murphy E G, Thompson M W, Worton R G

Abstract excerpt

Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Partial gene duplication has also been recognized in a few cases. We have conducted a survey for duplication in 72 unrelated nondeletion patients, analyzed by Sou...

Topics

Adolescent
Adult
Blotting, Southern
Child
DNA
DNA Probes
Female
Genotype
Humans
Male
Multigene Family
Muscular Dystrophies
Mutation
Pedigree
Phenotype
Restriction Mapping

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