Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis

被引：39

作者：

Campos, Y

Martin, MA

Navarro, C

Gordo, P

Arenas, J

机构：

[1] HOSP 12 OCTUBRE,CTR INVEST,E-28041 MADRID,SPAIN

[2] HOSP MEIXOEIRO,DEPT PATHOL,VIGO,SPAIN

[3] HOSP COSTA BURELA,DEPT MED,LUGO,SPAIN

来源：

NEUROLOGY | 1996年 / 47卷 / 04期

关键词：

D O I：

10.1212/WNL.47.4.1012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a nonalcoholic woman with multiple symmetric lipomatosis (MSL), muscle histochemistry showed ragged-red fibers and cytochrome c oxidase negative fibers. Southern blot analysis revealed a single deletion of mitochondrial DNA (mtDNA). We suggest that MSL is an uncommon manifestation of the wide clinical spectrum of mitochondrial disorders, in particular of those associated with single mtDNA deletions.

引用

页码：1012 / 1014

页数：3

共 14 条

[11]

LARSSON NG, 1992, AM J HUM GENET, V51, P1201

[12] MITOCHONDRIAL ABNORMALITIES ARE NOT INVARIABLY PRESENT IN NEUROLOGIC SYNDROMES ASSOCIATED WITH MULTIPLE SYMMETRICAL LIPOMATOSIS [J].