Multiple mutation in an extended Duchenne muscular dystrophy family.

doi:10.1136/jmg.29.2.123

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Article

Multiple mutation in an extended Duchenne muscular dystrophy family.

Journal of medical genetics - 1 Feb 1992

Miciak A, Keen A, Jadayel D, Bundey S

Abstract excerpt

We have investigated an extended pedigree with three cousins affected by Duchenne muscular dystrophy with apparent transmission through the male line. However, molecular studies have shown that one boy has a de novo duplication, another has a deletion, and the molecular mutation has yet to be def...

Topics

Adolescent
Child
Child, Preschool
Chromosome Deletion
DNA
Electrophoresis, Gel, Pulsed-Field
Female
Humans
Male
Multigene Family
Muscular Dystrophies
Mutation
Pedigree
Polymorphism, Restriction Fragment Length

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