A case of the Kearns-Shy syndrome.
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000175:diagnosis / Q000601:surgery; D002648:Child; D002657:Child Development; D003711:Demyelinating Diseases / Q000473:pathology; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006327:Heart Block / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009886:Ophthalmoplegia / Q000175:diagnosis* / Q000473:pathology; D012162:Retinal Degeneration / Q000175:diagnosis; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome
D008062:Lipofuscin