Ataxia-telangiectasia. A report of two cases in siblings presenting a picture of progressive spinal muscular atrophy.
D000328:Adult; D000367:Age Factors; D001260:Ataxia Telangiectasia / Q000473:pathology; D001706:Biopsy; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology; D012583:Schwann Cells; D013122:Spinal Diseases