A family with Kugelberg-Welander sydrome. Hereditary proximal spinal muscul atrophy--some additional features.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids / Q000652:urine; D001706:Biopsy; D004576:Electromyography; D005951:Glucose Tolerance Test; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013118:Spinal Cord Diseases / Q000473:pathology; D013122:Spinal Diseases / Q000175:diagnosis / Q000235:genetics*
D000596:Amino Acids