Benign X-linked Becker muscular dystrophy among Egyptian patients

ABSTRACT

This study included 30 male patients, their age ranged from 9 to 42 years. Becker muscle dystrophy [BMD] diagnosis was established in all patients on the base of the clinical and neurological assessment as well as the myopathic pattern of electromyography and the marked elevation of serum creatine phosphokinase enzyme. The diagnosis was confirmed by DNA analysis of dystrophin gene. Muscle biopsy studies were done using histochemical and enzyme histochemistry techniques as well as immunohistochemical study of dystrophin protein. BMD patients spanned a wide range of disease severity. DNA analysis revealed that either single or multiple deletion mutations within the dystrophin gene in all patients confirmed the diagnosis of BMD. Muscle biopsy studies showed changes specific for BMD as well as an abnormal expression of dystrophin protein