[Type II proximal spinal muscular atrophy. Clinical, electrophysiological, histopathological and histochemical studies].
D000251:Adenosine Triphosphatases / Q000378:metabolism; D001176:Arthrogryposis; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003711:Demyelinating Diseases; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D009046:Motor Neurons; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009431:Neural Conduction; D010243:Paralysis; D013118:Spinal Cord Diseases / Q000235:genetics*; D014166:Transferases / Q000378:metabolism
D007770:L-Lactate Dehydrogenase; D014166:Transferases; D003402:Creatine Kinase; D000251:Adenosine Triphosphatases; D005634:Fructose-Bisphosphate Aldolase
Atrofia muscolare spinale prossimale tipo II. Studio clinico, elettrofisiologico, istopatologico ed istochimico