title: [Application of combined DNA and dystrophin protein analysis in the diagnosis of Duchenne's and Becker's muscular dystrophy in 102 Dutch patients].
abstract: The recent progress in molecular genetic studies on Duchenne and Becker muscular dystrophy (DMD, BMD) had an important spin-off for our diagnostic abilities of both muscle disease. The mapping and isolation of the DMD gene which codes for the 427 kD cytoskeletal protein dystrophin made it possible to diagnose 80-85% of the patients by means of DNA analysis. At present, most of the remaining 15-20% of the patients can be diagnosed by protein analysis. In this report we describe the analysis of dystrophin in a group of 102 Dutch patients with muscular dystrophies. An immunohistochemical and immunobiochemical study of dystrophin was performed on muscle tissue, partly integrated with DNA analysis. In this study we underline the value of dystrophin analysis in all patients suspected of DMD, BMD or other muscular dystrophies, particularly in those without detectable DNA mutations. By means of integrated DNA/dystrophin analysis 98% of the DMD patients and 90% of th BMD patients and their families can now be provided with an unambiguous diagnosis. In particular, discrimination between BMD and other muscular dystrophies has strongly improved.
authors.affiliation: Afd. Anatomie en Embryologie, Academisch Medisch Centrum, Amsterdam.
authors.forename: H B
authors.initials: HB
authors.lastname: Ginjaar
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: H F
authors.initials: HF
authors.lastname: Busch
authors.forename: A F
authors.initials: AF
authors.lastname: Moorman
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: J B
authors.initials: JB
authors.lastname: van Ommen
mesh_terms: D000328:Adult; D001706:Biopsy; D015153:Blotting, Western; D002648:Child; D004247:DNA / Q000302:isolation & purification*; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000302:isolation & purification*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009132:Muscles / Q000737:chemistry*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000378:metabolism*; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity
chemical_list: D016189:Dystrophin; D004247:DNA