KEARNS-SAYRE SYNDROME WITH SIDEROBLASTIC ANEMIA - MOLECULAR INVESTIGATIONS

被引：22

作者：

NELSON, I

BONNE, G

DEGOUL, F

MARSAC, C

PONSOT, G

LESTIENNE, P

机构：

[1] CHU NECKER ENFANTS MALAD,INSERM,U75,F-75730 PARIS 15,FRANCE

[2] HOP ST VINCENT DE PAUL,SERV NEUROPEDIAT,F-75730 PARIS,FRANCE

[3] CHR ANGERS,INSERM,U298,F-49033 ANGERS 01,FRANCE

来源：

NEUROPEDIATRICS | 1992年 / 23卷 / 04期

关键词：

KEARNS-SAYRE SYNDROME; MITOCHONDRIAL DELETIONS; TRANSCRIPTION; TRANSLATION;

D O I：

10.1055/s-2008-1071341

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The Progressive syndrome of Kearns-Sayre has been studied at the clinical, biochemical and genetic levels in a patient. Clinical arguments suggest an evolution from Pearson's disease to Kearns-Sayre syndrome. The respiratory chain activities were low, and Southern blot analysis, together with gene sequencing, showed a heteroplasmic deletion of 7767 base pairs in a significant proportion of the mitochondrial DNA in different tissues. Protein synthesis studies on lymphoblasts did not reveal any translation of the new reading frame created by the deletion, although the corresponding deleted mitochondrial DNA sequence is transcribed.

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页码：199 / 205

页数：7

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