Severe muscular dystrophy in girls.
Twelve girls and 2 boys with severe but not congenital muscular dystrophy were found in a national survey. An autosomal recessive gene is likely to account for most if not all of these cases. The condition differs slightly from X-linked Duchenne muscular dystrophy in showing prominent early toe-walking, a milder course, relatively more weakness of the deltoid muscles, normal intelligence, a normal ECG and a more focal pattern of muscle pathology.
D000293:Adolescent; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007360:Intelligence; D008124:Locomotion; D008297:Male; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013577:Syndrome
D003402:Creatine Kinase