Toepassing van gecombineerde DNA- en dystrofine-eiwitanalyse in de diagnostiek van Duchenne- en van Becker-spierdystrofie bij 102 Nederlandse patiënten

– 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 diseases. 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 DNAdystrophin analysis 98 of the DMD patients and 90 of the 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.