title: Schwartz-Jampel syndrome.
authors.affiliation: Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India.
authors.forename: M L
authors.initials: ML
authors.lastname: Kulkarni
authors.forename: Rajappan
authors.initials: R
authors.lastname: Pillai
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D015415:Biomarkers / Q000097:blood; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D026741:Physical Therapy Modalities
chemical_list: D000927:Anticonvulsants; D015415:Biomarkers; D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase