Detection of the mutation in facioscapulohumeral muscular dystrophy patients.

doi:10.1111/j.1442-200x.1997.tb03564.x

Back to search

Article

Detection of the mutation in facioscapulohumeral muscular dystrophy patients.

Acta paediatrica Japonica : Overseas edition - 1 Feb 1997

Ohya K, Tachi N, Kozuka N, Kon S, Kikuchi K, Chiba S

Abstract excerpt

The gene responsible for facioscapulohumeral muscular dystrophy (FSHD) was mapped to chromosome 4q35 by linkage analyses. Recently, the probe p13E-11 derived from the cosmid clone 13E, which has been mapped to 4qter, detected a polymorphic EcoRI fragment, usually greater than 28 kb in normal indi...

Topics

Alleles
Blotting, Southern
Child
Chromosomes, Human, Pair 4
DNA Probes
Humans
Male
Middle Aged
Muscle, Skeletal
Muscular Dystrophies
Mutation
Pedigree

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.