卡恩斯-谢综合征。一种多系统疾病，在骨骼肌和皮肤中表现出线粒体异常。 - Suppr

Suppr

超能文献

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin.

作者信息

Karpati G, Carpenter S, Larbrisseau A, Lafontaine R

出版信息

J Neurol Sci. 1973 Jun;19(2):133-51. doi: 10.1016/0022-510x(73)90158-5.

DOI:10.1016/0022-510x(73)90158-5

PMID:4712930

Abstract

摘要

相似文献

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin.卡恩斯-谢综合征。一种多系统疾病，在骨骼肌和皮肤中表现出线粒体异常。

J Neurol Sci. 1973 Jun;19(2):133-51. doi: 10.1016/0022-510x(73)90158-5.

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.伴有“破碎红”纤维的眼颅体神经肌肉疾病

Arch Neurol. 1972 Mar;26(3):193-211. doi: 10.1001/archneur.1972.00490090019001.

[Opthalmoplegia externa progressiva. A clinical and morphological study (author's transl)].[进行性外眼肌麻痹。一项临床与形态学研究（作者译）]

Z Neurol. 1973 Dec 11;205(4):323-40.

[Kearns-Shy syndrome (author's transl)].

No To Shinkei. 1977 Nov;29(11):1141-55.

Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia.眼肌麻痹叠加症。与进行性眼外肌麻痹相关的神经退行性疾病。

Arch Neurol. 1968 Jun;18(6):654-74. doi: 10.1001/archneur.1968.00470360076008.

[Ophthalmoplegia plus and the Kearns-Sayre syndrome].

Rev Otoneuroophtalmol. 1983 Jan-Feb;55(1):57-66.

A case of the Kearns-Shy syndrome.

Clin Neurol Neurosurg. 1979;81(1):45-52. doi: 10.1016/s0303-8467(79)80006-2.

[Drachman's "ophthalmoplegia plus" or Kearns and Shy syndrome. Apropos of 2 cases with mitochondrial abnormality ultrastructurally demonstrated in the muscle].

Arch Ophtalmol Rev Gen Ophtalmol. 1975 Jun-Jul;35(6-7):509-20.

[Mitochondrial anomalies in Kearns' syndrome. (External ophthalmoplegia, pigmentary retinopathy, and intracardiac conduction disorders].

Bull Soc Belge Ophtalmol. 1974;167:702-23.

[Progressive external ophthalmoplegia and its associations. A case with ocular hypertension, tapeto-retinal degeneration and cardiac alterations].

Arch Ophtalmol Rev Gen Ophtalmol. 1974 Dec;34(12):879-86.

引用本文的文献

Mitochondrial DNA-depleter mouse as a model to study human pigmentary skin disorders.线粒体 DNA 耗竭小鼠作为研究人类色素性皮肤疾病的模型。

Pigment Cell Melanoma Res. 2021 Mar;34(2):179-187. doi: 10.1111/pcmr.12921. Epub 2020 Sep 4.

Megamitochondria formation - physiology and pathology.巨型线粒体的形成——生理学与病理学

J Cell Mol Med. 2002 Oct-Dec;6(4):497-538. doi: 10.1111/j.1582-4934.2002.tb00452.x.

Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia.卡恩斯-塞尔综合征。一例伴有脑白质营养不良和基底神经节钙化的完全型综合征病例。

Ital J Neurol Sci. 1981 Aug;2(3):263-8. doi: 10.1007/BF02335406.

Ophthalmoplegia plus. A multisystem disorder of unknown etiopathogenesis.眼肌麻痹叠加综合征。一种病因发病机制不明的多系统疾病。

Ital J Neurol Sci. 1980 Mar;1(2):85-94. doi: 10.1007/BF02336849.

Ophthalmoplegia-plus.眼肌麻痹加征

Doc Ophthalmol. 1981 Nov;51(4):373-82. doi: 10.1007/BF00143339.

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.线粒体细胞病。一种多系统疾病，肌肉活检可见破碎红纤维。

Arch Dis Child. 1981 Oct;56(10):741-52. doi: 10.1136/adc.56.10.741.

Computed tomography in mitochondrial cytopathy.线粒体细胞病中的计算机断层扫描

Neuroradiology. 1981;22(2):73-8. doi: 10.1007/BF00344777.

Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis.与乳酸酸中毒相关的儿童线粒体肌病综合征的超微结构研究。

Eur J Pediatr. 1982 Sep;139(1):25-30. doi: 10.1007/BF00442074.

Mitochondrial myopathies. Clinical, morphological and biochemical aspects.线粒体肌病。临床、形态学及生化方面

Eur J Pediatr. 1984 Feb;141(4):192-207. doi: 10.1007/BF00572761.

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study.进行性眼外肌麻痹患者骨骼肌中细胞色素c氧化酶的局灶性缺乏。细胞化学-超微结构研究。

Virchows Arch A Pathol Anat Histopathol. 1983;402(1):61-71. doi: 10.1007/BF00695049.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验