The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D000110:Acetylcholinesterase / Q000378:metabolism; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000150:complications* / Q000201:enzymology / Q000473:pathology; D004576:Electromyography; D005141:Eyelid Diseases / Q000150:complications*; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome
D000110:Acetylcholinesterase