WIDESPREAD TISSUE DISTRIBUTION OF A TRANSFER-RNA LEU (UUR) MUTATION IN THE MITOCHONDRIAL-DNA OF A PATIENT WITH MELAS SYNDROME

被引：103

作者：

CIAFALONI, E

RICCI, E

SERVIDEI, S

SHANSKE, S

SILVESTRI, G

MANFREDI, G

SCHON, EA

DIMAURO, S

机构：

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

[2] COLUMBIA PRESBYTERIAN MED CTR, DEPT GENET & DEV, NEW YORK, NY 10032 USA

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

来源：

NEUROLOGY | 1991年 / 41卷 / 10期

关键词：

D O I：

10.1212/WNL.41.10.1663

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We documented the presence of a newly described point mutation in the tRNA(Leu(UUR)) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues.

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页码：1663 / 1665

页数：3

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