Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities.
D000015:Abnormalities, Multiple; D001706:Biopsy; D001763:Blepharoptosis / Q000235:genetics; D001847:Bone Diseases / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005149:Facial Expression; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics; D009210:Myofibrils; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology; D011187:Posture