Identification of Duchenne muscular dystrophy carriers. Electron microscopical investigation of skeletal muscle.
In order to identify a subclinical dystrophy, muscle biopsy specimens from 15 mothers of boys with Duchenne muscular dystrophy were studied by electron microscopy. Genetic investigations and biochemical determinations were not conclusive for a diagnosis of the carrier state. The fine structural lesions were sufficient to vertify the diagnosis of a subclinical dystrophy, and our findings were in agreement with other investigators. However, original intranuclear filamentous formations were noted in one case.
D000328:Adult; D001706:Biopsy; D002467:Cell Nucleus / Q000648:ultrastructure; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007866:Leg; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure*; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology*; D009210:Myofibrils / Q000648:ultrastructure; D012508:Sarcolemma / Q000648:ultrastructure; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure