Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy

DNA analysis was carried out in 1 13 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of X-linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented. Owing to DNA and dystrophin analysis the correct diagnosis in some doubtful cases of muscular Address for correspondence: dystrophies could be established and some unusual pedigrees detected. Irena Hausmanowa-Petrusewicz Neuromuscular Unit Polish Academy of Sciences l a Banach St.,