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与白内障和电肌强直相关的肌管性肌病。

Myotubular myopathy associated with cataract and electrical myotonia.

作者信息

Hawkes C H, Absolon M J

出版信息

J Neurol Neurosurg Psychiatry. 1975 Aug;38(8):761-4. doi: 10.1136/jnnp.38.8.761.

DOI:10.1136/jnnp.38.8.761
PMID:1185197
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC492068/
Abstract

A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.

摘要

本文描述了一例肌管性肌病病例，该病例因双侧白内障和肌电图上显著的类肌强直放电而显得不同寻常。结合强直性肌营养不良讨论了这些发现的意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a26/492068/24db251955dc/jnnpsyc00182-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a26/492068/10432d7f6315/jnnpsyc00182-0034-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a26/492068/24db251955dc/jnnpsyc00182-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a26/492068/10432d7f6315/jnnpsyc00182-0034-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a26/492068/24db251955dc/jnnpsyc00182-0035-a.jpg

相似文献

1
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.
2
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts.近端肌强直性肌病：一种伴有肌强直、肌肉无力和白内障的新型显性遗传病。
Neurology. 1994 Aug;44(8):1448-52. doi: 10.1212/wnl.44.8.1448.
3
Centronuclear myopathy, cataract, and electrical myotonia: a new case.中央核性肌病、白内障与电肌强直：一例新病例。
Muscle Nerve. 1985 Nov-Dec;8(9):807-9.
4
Myotonic myopathy with painful muscle contractions and decrease of symptoms by cold.伴有疼痛性肌肉收缩且症状因寒冷而减轻的强直性肌病
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Progressive myotonia in foals resembling human dystrophia myotonica.马驹的进行性肌强直，类似于人类的强直性肌营养不良。
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Myotonia in centronuclear myopathy.中央核性肌病中的肌强直
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Centronuclear myopathy: clinical and pathologic features. Unlike early onset myotonic dystrophy, this condition is not associated with mental retardation or clinical or electric evidences of myotonia.中央核性肌病：临床与病理特征。与早发型强直性肌营养不良不同，这种疾病与智力发育迟缓或肌强直的临床或电生理证据无关。
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Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies.利用临床和电肌强直来鉴别儿童肌病
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引用本文的文献

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Myotonia in DNM2-related centronuclear myopathy.DNM2 相关的中核性肌病中的肌强直。
J Neural Transm (Vienna). 2014 May;121(5):549-53. doi: 10.1007/s00702-013-1140-8. Epub 2013 Dec 24.
2
Centronuclear (myotubular) myopathy.中央核（肌管）性肌病。
Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
3
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。

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。
J Neurol Neurosurg Psychiatry. 1982 Jun;45(6):507-12. doi: 10.1136/jnnp.45.6.507.
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
Myotonia in centronuclear myopathy.中央核性肌病中的肌强直
J Neurol Neurosurg Psychiatry. 1978 Dec;41(12):1102-8. doi: 10.1136/jnnp.41.12.1102.
Neurology. 1969 Jul;19(7):705-10. doi: 10.1212/wnl.19.7.705.
4
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 ("myotubular") myopathy.中央核（“肌管型”）肌病。
Arch Neurol. 1969 Feb;20(2):120-31. doi: 10.1001/archneur.1969.00480080020002.
6
Familial centronuclear myopathy.
J Neurol Neurosurg Psychiatry. 1970 Oct;33(5):687-93. doi: 10.1136/jnnp.33.5.687.
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
Myotonia induced by diazacholesterol: increased (Na+ + K+)-ATPase activity of erythrocyte ghosts and development of cataracts.
Exp Neurol. 1973 Dec;41(3):738-44. doi: 10.1016/0014-4886(73)90064-2.
9
Centronuclear myopathy with type I fiber atrophy and "myotubes".
Arch Neurol. 1970 Jul;23(1):70-3. doi: 10.1001/archneur.1970.00480250074010.
10
Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model.I型纤维萎缩和中央核。一种罕见的先天性肌肉异常，可能是一种实验模型。
Arch Neurol. 1968 Apr;18(4):435-44. doi: 10.1001/archneur.1968.00470340121011.