وثيقة

Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents.

المعرف
DOI: 10.1136/jmg.34.8.701
المصدر
Journal of medical genetics. v. 34, 8, p. 701
المساهمون
الدولة
United States.
مكان النشر
Maryland.
الناشر
National Library of Medicine.
ميلادي
1997-08-01
اللغة
الأنجليزية
الملخص الإنجليزي
A 6 year old Omani Arab girl presented with one year's history of progressive intellectual deterioration, grimacing, dysarthria, dystonic posturing of the hands, and ataxia with falls, and was now severely retarded and mute. She came from a family affected by Huntington's disease (HD). Her parents, III. 19 and III.20, who were cousins aged 36 and 27 years respectively, reported that their mothers, II.2 and II.5, had died from HD. Both parents appeared to be healthy and were asymptomatic, but they suspected that their child had inherited the "family disease".
ISSN
0022-2593
قالب العنصر
مقالات الدوريات

مواد أخرى لنفس المؤلف

مقالات الدوريات
5
0
Scrimgeour, Euan M.
King Faisal Specialist Hospital and Research Centre.
2001-05-01