title: Dystrophin analysis in the diagnosis of muscular dystrophy.
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.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff.
authors.forename: A M
authors.initials: AM
authors.lastname: Norman
authors.forename: H E
authors.initials: HE
authors.lastname: Hughes
authors.forename: D
authors.initials: D
authors.lastname: Gardner-Medwin
authors.forename: L V
authors.initials: LV
authors.lastname: Nicholson
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003937:Diagnosis, Differential; D016189:Dystrophin; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000032:analysis*; D009132:Muscles / Q000032:analysis; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D009124:Muscle Proteins