Dystrophin analysis in the diagnosis of muscular dystrophy

A M Norman; H E Hughes; D Gardner-Medwin; L V Nicholson

doi:10.1136/adc.64.10.1501

Dystrophin analysis in the diagnosis of muscular dystrophy

Arch Dis Child. 1989 Oct;64(10):1501-3. doi: 10.1136/adc.64.10.1501.

Authors

A M Norman¹, H E Hughes, D Gardner-Medwin, L V Nicholson

Affiliation

¹ Institute of Medical Genetics, University Hospital of Wales, Cardiff.

Abstract

We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Child, Preschool
Diagnosis, Differential
Dystrophin
Female
Genes, Recessive
Genetic Linkage
Humans
Male
Muscle Proteins / analysis*
Muscles / analysis
Muscular Dystrophies / diagnosis*
Muscular Dystrophies / genetics
Muscular Dystrophies / metabolism
X Chromosome

Substances

Dystrophin
Muscle Proteins