Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene.

doi:10.1007/BF01799613

Back to search

Article

Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene.

Journal of inherited metabolic disease - 1 Jan 1992

Worton R G

Abstract excerpt

The X-linked gene responsible for Duchenne muscular dystrophy encodes dystrophin, a high-molecular-weight cytoskeletal protein. Studies in several laboratories have revealed deletion of one or more exons in 60% of affected boys; quantitative analysis in our laboratory has detected duplication of...

Topics

Chromosome Aberrations
Dystrophin
Female
Humans
Male
Muscular Dystrophies
Mutation
X Chromosome

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.