MATERNALLY INHERITED LEIGH SYNDROME

被引：77

作者：

CIAFALONI, E

SANTORELLI, FM

SHANSKE, S

DEONNA, T

ROULET, E

JANZER, C

PESCIA, G

DIMAURO, S

机构：

[1] COLUMBIA PRESBYTERIAN MED CTR, H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY, NEW YORK, NY 10032 USA

[2] CHU VAUDOIS, NEUROPEDIAT UNIT, CH-1011 LAUSANNE, SWITZERLAND

[3] CHU VAUDOIS, DIV AUTONOME GENET MED, CH-1011 LAUSANNE, SWITZERLAND

[4] UNIV LAUSANNE, INST PATHOL, DIV NEUROPATHOL, CH-1000 LAUSANNE 17, SWITZERLAND

来源：

JOURNAL OF PEDIATRICS | 1993年 / 122卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(05)83431-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the some mother after heterologous artificial insemination also lost acquired skills and died of 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome con be transmitted by maternal inheritance.

引用

页码：419 / 422

页数：4

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