Clinical, myopathological and genetic features in five female manifesting carriers of Duchenne muscular dystrophy / 中华神经科杂志

ABSTRACT

Objective To analyze the clinical,myopathological and genetic features in 5 female manifesting carriers of Duchenne muscular dystrophy (DMD).Methods The age of onset of these 5 patients were from birth to 54 years old,one of which had a family history of DMD.Two patients presented with proximal weakness,one with myalgia and dilated cardiomyopathy,one with limb weakness and ventricular septal defect,and one with exercise intolerance.Serum creatine kinase concentrations were between 1 000-31 815 U/L.Muscle biopsies were performed in 4 patients.Dystrophin gene mutation analyses were carried out in 5 patients by multiplex ligation-dependent probe amplification.Karyotype study was done in one patient who had no dystrophin gene mutation.Results Muscle biopsy revealed markedly decreased dystrophin expression in one patient and a mosaic pattern with some fibers lacking or partially expressing dystrophin in 3 patients.Four patients were identified carrying exonic deletions of dystrophin gene and one had t(x;5) (p21 ;p14).Conclusions The clinical manifestations and myopathological changes are more compatible with Becker muscular dystrophy.Chromosome translocation can be detected in Chinese female manifesting carrier.