Alternating hemiplegia of childhood in half-sisters

被引：13

作者：

Kramer, U

Nevo, Y

Margalit, D

Shorer, Z

Harel, S

机构：

[1] Tel Aviv Univ, Dana Childrens Hosp, Tel Aviv Sourasky Med Ctr, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[2] Kaplan Hosp, IL-76100 Rehovot, Israel

[3] Soroka Med Ctr, IL-84101 Beer Sheva, Israel

来源：

JOURNAL OF CHILD NEUROLOGY | 2000年 / 15卷 / 02期

关键词：

D O I：

10.1177/088307380001500212

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present the family of two girls affected with alternating hemiplegia of childhood who were born to the same mother and different fathers. Previous reports suggested mitochondrial dysfunction as an Etiologic mechanism for this disorder. Muscle biopsy, including a measurement of the respiratory chain enzymes, performed in one of the sisters showed no mitochondrial abnormalities. The mode of inheritance is not certain, but an autosomal-dominant gene is most likely.

引用

页码：128 / 130

页数：3

共 12 条

[1]

Aicardi J, 1987, INT PEDIATR, V2, P115

[2] EVIDENCE FOR MITOCHONDRIAL DYSFUNCTION IN PATIENTS WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD [J].