Rett syndrome and aging

Joav Merrick, Meir Lotan, Mohammed Morad, Isack Kandle

نتاج البحث: نشر في مجلةمقالةمراجعة النظراء

1 اقتباس (Scopus)

ملخص

Rett syndrome (RS) is a neurological disease characterized by an arrest of brain development caused by an X chromosome mutation affecting mainly females. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. The disease has been traced to a defective gene called MECP2 on the X chromosome. This review of aging with RS revealed very few studies, but the published case stories showed that females with RS can live even to age 79 years, but larger studies are needed to bring more light into the natural and long-term consequences of this syndrome.

اللغة الأصليةالإنجليزيّة
الصفحات (من إلى)23-26
عدد الصفحات4
دوريةInternational Journal on Disability and Human Development
مستوى الصوت5
رقم الإصدار1
المعرِّفات الرقمية للأشياء
حالة النشرنُشِر - 2006

بصمة

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