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Titolo:
INTRANUCLEAR INCLUSIONS IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY AMONG BUKHARA JEWS
Autore:
BLUMEN SC; SADEH M; KORCZYN AD; ROUCHE A; NISIPEANU P; ASHEROV A; TOME FMS;
Indirizzi:
TEL AVIV UNIV,SACKLER FAC MED IL-69978 RAMAT AVIV ISRAEL TEL AVIV MED CTR & SCH MED,DEPT NEUROL IL-64239 TEL AVIV ISRAEL CHAIM SHEBA MED CTR IL-52621 TEL HASHOMER ISRAEL INSERM U153,GRP RECH BIOL & PATHOL NEUROMUSC PARIS FRANCE
Titolo Testata:
Neurology
fascicolo: 5, volume: 46, anno: 1996,
pagine: 1324 - 1328
SICI:
0028-3878(1996)46:5<1324:IIIOMA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL ABNORMALITIES; NUCLEAR INCLUSIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
S.C. Blumen et al., "INTRANUCLEAR INCLUSIONS IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY AMONG BUKHARA JEWS", Neurology, 46(5), 1996, pp. 1324-1328

Abstract

We studied, by electron microscopy, muscle biopsies from seven patients with autosomal dominant oculopharyngeal muscular dystrophy (OPMD) belonging to the recently described Bukhara-Jewish cluster. Typical tubulofilamentous intranuclear inclusions (INI) of 8.5 nm outer diameter were present in all cases. The INI were observed in 4.5 +/- 1.8% of the nuclei in five patients. In the other two, they occurred in 9.5 +/- 0.5% of the nuclei and often occupied a larger nuclear area, These twopatients, offspring of intermarriage between affected cousins, had anunusually severe form of OPMD beginning in their early 30s, suggesting homozygote state. Our results confirm that INI are pathognomonic forOPMD and suggest that their frequency may be quantitatively related to the number of abnormal DNA copies.

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Documento generato il 21/09/20 alle ore 07:37:08