The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin.
D001763:Blepharoptosis; D002524:Cerebellar Ataxia; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D002648:Child; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D006130:Growth Disorders; D006327:Heart Block; D006651:Histocytochemistry; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D008607:Intellectual Disability; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology; D009468:Neuromuscular Diseases; D009801:Oculomotor Muscles / Q000473:pathology; D009886:Ophthalmoplegia; D012174:Retinitis Pigmentosa; D013545:Sweat Glands / Q000473:pathology; D013577:Syndrome
D002556:Cerebrospinal Fluid Proteins; D007136:Immunoglobulins