TISSUE DISTRIBUTION AND TRANSMISSION OF MITOCHONDRIAL-DNA DELETIONS IN MITOCHONDRIAL MYOPATHIES

被引：93

作者：

ZEVIANI, M

GELLERA, C

PANNACCI, M

UZIEL, G

PRELLE, A

SERVIDEI, S

DIDONATO, S

机构：

[1] IST NAZL NEUROL C BESTA, DEPT BIOCHEM & GENET, VIA CELORZA 11, I-20133 MILAN, ITALY

[2] UNIV STATALE, CTR DINO FERRARI, IST CLIN NEUROL, MILAN, ITALY

[3] UNIV CATTOLICA SACRO CUORE, NEUROL CLIN, I-00168 ROME, ITALY

来源：

ANNALS OF NEUROLOGY | 1990年 / 28卷 / 01期

关键词：

D O I：

10.1002/ana.410280118

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

By using a combination of Southern blot hybridization analysis, polymerase–chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns‐Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance. Copyright © 1990 American Neurological Association

引用

页码：94 / 97

页数：4

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