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与“心肌病”相关的家族性中央核性肌病

Familial centronuclear myopathy associated with 'cardiomyopathy'.

作者信息

Verhiest W, Brucher J M, Goddeeris P, Lauweryns J, De Geest H

出版信息

Br Heart J. 1976 May;38(5):504-9. doi: 10.1136/hrt.38.5.504.

DOI:10.1136/hrt.38.5.504
PMID:131568
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC483023/
Abstract

Two cases of familial centronuclear myopathy are described. Both presented features of 'cardiomyopathy and one had signs of slight congenital aortic stenosis. The 'cardiomyopathy' was fatal in one case. The clinical histological, and necropsy findings are presented and discussed.

摘要

本文描述了两例家族性中央核性肌病。两者均表现出“心肌病”特征,其中一例有轻度先天性主动脉狭窄体征。其中一例“心肌病”患者死亡。文中呈现并讨论了临床、组织学及尸检结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/e25810ddb34e/brheartj00243-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/dcd9e2adbdb4/brheartj00243-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/548dae4eb39e/brheartj00243-0073-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/4215c1f035a3/brheartj00243-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/1007c2f31728/brheartj00243-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/e25810ddb34e/brheartj00243-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/dcd9e2adbdb4/brheartj00243-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/548dae4eb39e/brheartj00243-0073-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/4215c1f035a3/brheartj00243-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/1007c2f31728/brheartj00243-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56b6/483023/e25810ddb34e/brheartj00243-0076-a.jpg

相似文献

1
Familial centronuclear myopathy associated with 'cardiomyopathy'.与“心肌病”相关的家族性中央核性肌病
Br Heart J. 1976 May;38(5):504-9. doi: 10.1136/hrt.38.5.504.
2
[Familial myopathy with exclusively cardiac clinical expression].[仅表现为心脏症状的家族性肌病]
Arch Mal Coeur Vaiss. 1977 Oct;70(10):1097-103.
3
Familial centronuclear myopathy.
J Neurol Neurosurg Psychiatry. 1970 Oct;33(5):687-93. doi: 10.1136/jnnp.33.5.687.
4
[Familial form of centronuclear myopathy in the adult].[成人中心核肌病的家族形式]
Rev Neurol (Paris). 1976 Dec;132(12):845-57.
5
Centronuclear myopathy.中央核性肌病
J Neurol Neurosurg Psychiatry. 1979 Jun;42(6):548-56. doi: 10.1136/jnnp.42.6.548.
6
Idiopathic cardiomyopathy and skeletal muscle abnormality.特发性心肌病和骨骼肌异常。
Am Heart J. 1975 Dec;90(6):767-73. doi: 10.1016/0002-8703(75)90467-6.
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[Familial myopathy of the shoulder and pelvic girdle associated with cardiomyopathy].[与心肌病相关的肩带和骨盆带家族性肌病]
Neurologija. 1979;27(1-4):67-71.
8
Cardiomyopathy, myopathy, cataracts and CNS disorders: fourth case of a new familial disease?
Acta Paediatr. 1999 Nov;88(11):1293-4. doi: 10.1080/080352599750030473.
9
Axonal filamentous spheroids associated with cardiomyopathy with "targetoid fibers". I. Clinical, histologic, and electron microscopic studies.与伴有“靶样纤维”的心肌病相关的轴突丝状球体。I. 临床、组织学和电子显微镜研究。
Neurology. 1974 Jun;24(6):547-54. doi: 10.1212/wnl.24.6.547.
10
Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings.
Arch Neurol. 1985 Nov;42(11):1084-6. doi: 10.1001/archneur.1985.04060100070025.

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Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
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The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.肌管性肌病:X连锁隐性、常染色体显性和常染色体隐性形式的鉴别诊断及DNA研究现状
J Med Genet. 1995 Sep;32(9):673-9. doi: 10.1136/jmg.32.9.673.