Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001706:Biopsy; D002648:Child; D002854:Chromatography, Paper; D002875:Chromosomes; D004035:Diet Therapy; D004576:Electromyography; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005998:Glycine / Q000652:urine; D006639:Histidine / Q000652:urine; D006801:Humans; D007677:Kidney Function Tests; D008239:Lysine / Q000652:urine; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D010388:Pelvis
D006639:Histidine; D008239:Lysine; D005998:Glycine