title: A new polygenic disturbance: cystinuria, leucinuria and spinal muscular atrophy.
mesh_terms: D000172:Acromegaly / Q000150:complications / Q000235:genetics; D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001706:Biopsy; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D003555:Cystinuria / Q000150:complications / Q000235:genetics*; D004576:Electromyography; D005260:Female; D006801:Humans; D007930:Leucine / Q000652:urine*; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013118:Spinal Cord Diseases; D013577:Syndrome
chemical_list: D003402:Creatine Kinase; D007930:Leucine