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多核肌病:并非总是良性疾病。

Multicore myopathy: not always a benign entity.

作者信息

Shuaib A, Martin J M, Mitchell L B, Brownell A K

机构信息

Department of Clinical Neurosciences, Faculty of Medicine, University of Calgary, Alberta, Canada.

出版信息

Can J Neurol Sci. 1988 Feb;15(1):10-4. doi: 10.1017/s0317167100027098.

DOI:10.1017/s0317167100027098
PMID:3345455
Abstract

Four patients with Multicore Myopathy, a rare morphologically distinct myopathy, are described. Although previously considered to be a non-progressive or only slowly progressive myopathy, progression to significant disability was seen in three of our cases. The association of cardiac disease with Multicore Myopathy has not been previously emphasised. All four patients in this study had a cardiomyopathy, and heart disease was the cause of death in two of the patients. Multicore Myopathy is not always a benign entity. Cardiac involvement, when present, adversely affects prognosis.

摘要

本文描述了4例多核肌病患者,这是一种罕见的形态学上独特的肌病。尽管此前认为它是非进行性或仅缓慢进展性肌病,但我们的3例患者出现了进展至严重残疾的情况。此前未强调过心脏病与多核肌病的关联。本研究中的所有4例患者均患有心肌病,其中2例患者死于心脏病。多核肌病并不总是一种良性疾病。一旦出现心脏受累,会对预后产生不利影响。

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1
Multicore myopathy: not always a benign entity.多核肌病:并非总是良性疾病。
Can J Neurol Sci. 1988 Feb;15(1):10-4. doi: 10.1017/s0317167100027098.
2
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy.心肌病、智力发育迟缓与自噬性空泡性肌病。
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A study of a myopathy presenting as idiopathic scoliosis. Multicore disease or mitochondrial myopathy?一项关于表现为特发性脊柱侧凸的肌病的研究。多核病还是线粒体肌病?
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Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.伴有中间丝聚集的心肌病和多核肌病。
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["Multicore" myopathy: report of 5 cases].["多核"肌病:5例报告]
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Arch Mal Coeur Vaiss. 1981 Aug;74(8):985-91.
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Acquired, familial noncompaction and eccentric hypertrophic cardiomyopathy associated with metabolic myopathy and epilepsy.获得性、家族性心肌致密化不全及离心性肥厚型心肌病伴发代谢性肌病和癫痫。
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Multicore myopathy in a patient with anhidrotic ectodermal dysplasia.一名无汗性外胚层发育不良患者的多核肌病。
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Nemaline myopathy associated with hypertrophic cardiomyopathy.与肥厚型心肌病相关的杆状体肌病
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Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy).伴有挛缩的早发型良性常染色体显性遗传性肢带型肌病(贝斯勒姆肌病)
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2
Cored in the act: the use of models to understand core myopathies.在行动中剖析:利用模型理解核心肌病。
Dis Model Mech. 2019 Dec 19;12(12):dmm041368. doi: 10.1242/dmm.041368.
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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.隐性 TTN 截断突变定义了伴有心脏病的新型核心肌病。
Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8.
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Multi-minicore Disease.多微核疾病
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Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy.
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7
Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.伴有中间丝聚集的心肌病和多核肌病。
Eur J Pediatr. 1990 Sep;149(12):856-8. doi: 10.1007/BF02072073.
8
Multicore myopathy in a patient with anhidrotic ectodermal dysplasia.一名无汗性外胚层发育不良患者的多核肌病。
Can J Anaesth. 1992 Nov;39(9):966-8. doi: 10.1007/BF03008347.