[Progressive nuclear ophthalmoplegic myopathy with retinitis pigmentosa, scrotal tongue and intellectual deterioration--a nosologically independent syndrome?].
This is the second reported description in the available literature of a family with nuclear ophthalmoplegic myopathy, pigment retinitis, scrotal tongue and intellectual deterioration. Nosological independence of the syndrome is discussed.
D000293:Adolescent; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D009886:Ophthalmoplegia / Q000175:diagnosis* / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014063:Tongue, Fissured / Q000175:diagnosis* / Q000235:genetics
Progressiruiushchaia iadernaia oftal'moplegicheskaia miopatiia s pigmentnym retinitom, skrotal'nym iazykom i snizheniem intellekta--nozologicheski samostoiatel'nyĭ sindrom?