Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia.
D000328:Adult; D001706:Biopsy; D001796:Blood Protein Disorders / Q000150:complications / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D006801:Humans; D008074:Lipoproteins / Q000097:blood* / Q000134:cerebrospinal fluid; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications*; D009431:Neural Conduction; D009460:Neurologic Examination; D009461:Neurologic Manifestations; D010375:Pedigree; D013129:Spinal Puncture
D008074:Lipoproteins; D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase