A family with Leigh syndrome caused by the rarer T8993C mutation

被引：7

作者：

Chakrapani, A ^{[1
]}

Heptinstall, L ^{[1
]}

Walter, J ^{[1
]}

机构：

[1] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 4HA, Lancs, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 06期

关键词：

D O I：

10.1023/A:1005401121344

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：685 / 686

页数：2

共 3 条

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GABREELS, FJM ;

RUITENBEEK, W ;

VANOOST, BA .

ANNALS OF NEUROLOGY, 1993, 34 (03) :410-412

[2] Segregation of the GB993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome [J].

Ferlin, T ;

Landrieu, P ;

Rambaud, C ;

Fernandez, H ;

Dumoulin, R ;

Rustin, P ;

Mousson, B .

JOURNAL OF PEDIATRICS, 1997, 131 (03) :447-449

[3] Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation [J].

Santorelli, FM ;

Mak, SC ;

VazquezMemije, ME ;

Shanske, S ;

KranzEble, P ;

Jain, KD ;

Bluestone, DL ;

DeVivo, DC ;

DiMauro, S .

PEDIATRIC RESEARCH, 1996, 39 (05) :914-917

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