Congenital rod disease. Further evidence of innervational abnormalities as the basis for the clinicopathologic features.
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D001247:Asthenia / Q000201:enzymology / Q000648:ultrastructure; D002648:Child; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D009135:Muscular Diseases / Q000151:congenital* / Q000201:enzymology / Q000648:ultrastructure; D009210:Myofibrils / Q000201:enzymology / Q000648:ultrastructure; D009247:NADH, NADPH Oxidoreductases / Q000378:metabolism; D006005:Phosphorylases / Q000378:metabolism; D013116:Spinal Cord / Q000473:pathology*; D013577:Syndrome; D013778:Tetrazolium Salts
D013778:Tetrazolium Salts; D009247:NADH, NADPH Oxidoreductases; D006005:Phosphorylases; D000251:Adenosine Triphosphatases