Syndrome de Kearns-Sayre
- Syndrome de Kearns-Sayre
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Le Syndrome de Kearns-Sayre est une maladie neuromusculaire (myopathie; ophtalmoplégie), due à des délétions de l'ADN mitochondrial : de 1,3 à 8kb (souvent 5kb). Ce sont des délétions très souvent sporadiques, et donc hétéroplasmiques.
Les symptômes apparaissent quand le pourcentage d'ADN mitochondrial anormal par cellule est grand (>60%, cellules musculaires)
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Kearns–Sayre syndrome — Kearns Sayre syndrome Classification and external resources ICD 10 H49.8 ICD 9 277.87 … Wikipedia
Kearns-Sayre syndrome — Kearns Sayre syndrome. См. синдром Кирнса Сейра. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Kearns-Sayre syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 7137 ICD10 = ICD10|H|49|8|h|49 ICD9 = ICD9|277.87 ICDO = OMIM = 530000 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2763 MeshID = D007625 Kearns Sayre syndrome (abbreviated KSS) or… … Wikipedia
Kearns-Sayre-Syndrom — Klassifikation nach ICD 10 G31.81 Mitochondriale Zytopathie … Deutsch Wikipedia
Síndrome de Kearns-Sayre — Clasificación y recursos externos CIE 10 H49.8 CIE 9 277.87 OMIM 530000 … Wikipedia Español
síndrome de Kearns-Sayre — Eng. Kearns Sayre syndrome Síndrome de herencia autosómica recesiva en el que se asocia retinosis pigmentaria, oftalmoplejía nuclear, miopatía con alteración de la musculatura extraocular y respiratoria lo que provoca distrés y defectos en la… … Diccionario de oftalmología
Kearns-Sayre syndrome — (kernzґ sār) [Thomas P. Kearns, American ophthalmologist, born 1922; George Pomeroy Sayre, American pathologist, born 1911] see under syndrome … Medical dictionary
Kearns-Sayre syndrome — noun Oculocraniosomatic disease … Wiktionary
Kearns-Sayre syndrome — progressive ophthalmoplegia, pigmentary degeneration of the retina, myopathy, ataxia, and cardiac conduction defect; onset is before age 20. Almost all patients have large mitochondrial DNA deletions, and ragged red fibers are seen on muscle… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
