伴有肌肉线粒体DNA缺失的卡恩斯-塞尔综合征 - Suppr

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Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.

作者信息

Lestienne P, Ponsot G

出版信息

Lancet. 1988 Apr 16;1(8590):885. doi: 10.1016/s0140-6736(88)91632-7.

DOI:10.1016/s0140-6736(88)91632-7

PMID:2895391

Abstract

摘要

相似文献

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.伴有肌肉线粒体DNA缺失的卡恩斯-塞尔综合征

Lancet. 1988 Apr 16;1(8590):885. doi: 10.1016/s0140-6736(88)91632-7.

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.卡恩斯-塞尔综合征中异质性线粒体DNA缺失的定位

Nucleic Acids Res. 1989 Oct 25;17(20):8117-24. doi: 10.1093/nar/17.20.8117.

mtDNA deletions in Kearns-Sayre.

Neurology. 1990 Aug;40(8):1322-3. doi: 10.1212/wnl.40.8.1322-a.

Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy.线粒体DNA疾病的神经眼科表现：慢性进行性眼外肌麻痹、卡恩斯-塞尔综合征和莱伯遗传性视神经病变。

Neurol Clin. 1991 Feb;9(1):147-61.

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.卡恩斯-塞尔综合征中突变线粒体DNA比例的逐渐增加。

Pediatr Res. 1990 Aug;28(2):131-6. doi: 10.1203/00006450-199008000-00011.

Duplications of mitochondrial DNA in Kearns-Sayre syndrome.线粒体DNA重复与卡恩斯-塞尔综合征。

Muscle Nerve Suppl. 1995;3:S154-8. doi: 10.1002/mus.880181430.

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.进行性眼外肌麻痹和凯-赛综合征中的线粒体DNA缺失

N Engl J Med. 1989 May 18;320(20):1293-9. doi: 10.1056/NEJM198905183202001.

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.与线粒体DNA缺失相关的自发性凯-赛综合征/慢性进行性眼外肌麻痹加综合征：一种滑链复制模型和代谢疗法。

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7952-6. doi: 10.1073/pnas.86.20.7952.

[A patient with Pearson and Kearns-Sayre syndrome and a common 4.9 Kb deletion of mitochondrial DNA in blood].

An Esp Pediatr. 1998 Nov;49(5):510-2.

[Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome].[核苷酸图谱绘制及卡恩斯-塞尔综合征中线粒体DNA 4666个碱基对异质性缺失的动力学模型]

C R Acad Sci III. 1989;309(10):403-7.

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