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Familial centronuclear myopathy.

作者信息

Bradley W G, Price D L, Watanabe C K

出版信息

J Neurol Neurosurg Psychiatry. 1970 Oct;33(5):687-93. doi: 10.1136/jnnp.33.5.687.

DOI:10.1136/jnnp.33.5.687
PMID:5478951
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC493550/
Abstract

The clinical and histological features of two Negro brothers with a centronuclear myopathy are described. They bring to 19 the number of cases now reported with this constellation of physical signs and pathological changes in the muscles. A review of these patients suggests the existence of several different diseases causing this picture, though presumably the underlying biochemical defects are closely related. It is concluded that these myopathies are degenerative rather than due to arrest of foetal muscle maturation.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/f0bb359983d7/jnnpsyc00221-0138-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/697d22a0a549/jnnpsyc00221-0136-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/8631d6af36a0/jnnpsyc00221-0137-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/f0bb359983d7/jnnpsyc00221-0138-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/697d22a0a549/jnnpsyc00221-0136-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/8631d6af36a0/jnnpsyc00221-0137-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4079/493550/f0bb359983d7/jnnpsyc00221-0138-a.jpg

相似文献

1
Familial centronuclear myopathy.
J Neurol Neurosurg Psychiatry. 1970 Oct;33(5):687-93. doi: 10.1136/jnnp.33.5.687.
2
Familial centronuclear myopathy associated with 'cardiomyopathy'.与“心肌病”相关的家族性中央核性肌病
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[Familial form of centronuclear myopathy in the adult].[成人中心核肌病的家族形式]
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Centronuclear myopathy.中央核性肌病
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Myotonia in centronuclear myopathy.中央核性肌病中的肌强直
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Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.特发性核性肌病伴重症肌无力的神经肌肉传递终板结构和参数。
Neuromuscul Disord. 2011 Jun;21(6):387-95. doi: 10.1016/j.nmd.2011.03.002. Epub 2011 Apr 8.
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Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.伴有I型纤维萎缩、眼肌麻痹和肌原纤维变性的先天性神经肌肉疾病。
J Neurol Neurosurg Psychiatry. 1982 Jun;45(6):507-12. doi: 10.1136/jnnp.45.6.507.
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Teaching monograph: pathology of skeletal muscle diseases.

本文引用的文献

1
Familial centronuclear myopathy: a clinical and pathological study.家族性中央核性肌病:一项临床与病理研究。
Neurology. 1967 Aug;17(8 Pt 1):727-42. doi: 10.1212/wnl.17.8.727.
2
Familial "myotubular" myopathy.家族性“肌管性”肌病。
Neurology. 1969 Sep;19(9):901-8. doi: 10.1212/wnl.19.9.901.
3
Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures.伴有I型纤维萎缩、中央核及肌管样结构的神经肌肉疾病。
教学专著:骨骼肌疾病病理学
Am J Pathol. 1982 May;107(2):231-76.
4
Adult onset centronuclear myopathy with peripheral nerve involvement.成人起病的伴有周围神经受累的中央核性肌病。
J Neurol. 1982;228(3):147-59. doi: 10.1007/BF00313727.
5
The syndrome of myosclerosis.肌硬化综合征
J Neurol Neurosurg Psychiatry. 1973 Aug;36(4):651-60. doi: 10.1136/jnnp.36.4.651.
6
A case of centronuclear myopathy.一例中央核性肌病。
Z Neurol. 1973 Aug 29;205(1):83-90. doi: 10.1007/BF00315962.
7
Hypotrophy of type I fibres with central nuclei: recovery 4 years after diagnosis.伴有中央核的I型纤维萎缩:诊断后4年的恢复情况
J Neurol Neurosurg Psychiatry. 1985 Feb;48(2):167-71. doi: 10.1136/jnnp.48.2.167.
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Myotubular myopathy associated with cataract and electrical myotonia.与白内障和电肌强直相关的肌管性肌病。
J Neurol Neurosurg Psychiatry. 1975 Aug;38(8):761-4. doi: 10.1136/jnnp.38.8.761.
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[Centronuclear myopathy with autosomal dominant inheritance(author's transl)].常染色体显性遗传的中央核性肌病(作者译)
Humangenetik. 1975;27(3):199-215. doi: 10.1007/BF00278346.
10
Decreased insulin sensitivity of forearm muscle in myotonic dystrophy.强直性肌营养不良患者前臂肌肉胰岛素敏感性降低。
J Clin Invest. 1978 Oct;62(4):857-67. doi: 10.1172/JCI109198.
Neurology. 1969 Jul;19(7):705-10. doi: 10.1212/wnl.19.7.705.
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Myotubular, centronuclear or Peri-Centronuclear myopathy?
J Neurol Sci. 1969 May-Jun;8(3):425-43. doi: 10.1016/0022-510x(69)90003-3.
5
Centronuclear myopathy.中央核性肌病
Eur Neurol. 1968;1(6):325-33. doi: 10.1159/000113672.
6
The descending ocular myopathy of early childhood; myotubular or centronuclear myopathy.
Eur Neurol. 1970;3(1):1-12. doi: 10.1159/000113955.
7
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.肌管性肌病。一名青少年男性胎儿型肌肉持续存在。
Arch Neurol. 1966 Jan;14(1):1-14. doi: 10.1001/archneur.1966.00470070005001.
8
Changes in motor innervation and cholinesterase localization induced by botulinum toxin in skeletal muscle of the mouse: differences between fast and slow muscles.肉毒杆菌毒素对小鼠骨骼肌运动神经支配和胆碱酯酶定位的影响:快肌与慢肌的差异
J Neurol Neurosurg Psychiatry. 1970 Feb;33(1):40-54. doi: 10.1136/jnnp.33.1.40.
9
Myotubular myopathy.
Arch Neurol. 1968 Mar;18(3):265-71. doi: 10.1001/archneur.1968.00470330055005.
10
Myotubular myopathy.肌管性肌病
J Neurol Sci. 1969 May-Jun;8(3):563-71. doi: 10.1016/0022-510x(69)90014-8.