Familial proximal spinal muscular atrophy.
D000328:Adult; D044383:Black People; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree