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Multicore disease in twins.

作者信息

Heffner R, Cohen M, Duffner P, Daigler G

出版信息

J Neurol Neurosurg Psychiatry. 1976 Jun;39(6):602-6. doi: 10.1136/jnnp.39.6.602.

DOI:10.1136/jnnp.39.6.602
PMID:985853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC492359/
Abstract

Multicore disease in identical twin boys presented in infancy as generalized weakness and torticollis. Motor milestones such as sitting, standing, and running were delayed, although by the age of 6 years marked improvement in muscle strength had occurred. Serum enzymes were normal. Muscle biopsy revealed multifocal areas of decreased oxidative enzyme activity. Ultrastructurally, these areas were characterized by myofilament disruption and Z-band streaming.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0873/492359/39f39b0d3b4b/jnnpsyc00168-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0873/492359/430403133df9/jnnpsyc00168-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0873/492359/39f39b0d3b4b/jnnpsyc00168-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0873/492359/430403133df9/jnnpsyc00168-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0873/492359/39f39b0d3b4b/jnnpsyc00168-0090-a.jpg

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1
Multicore disease in twins.
J Neurol Neurosurg Psychiatry. 1976 Jun;39(6):602-6. doi: 10.1136/jnnp.39.6.602.
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Rev Neurol (Paris). 1978 Jun-Jul;134(6-7):411-25.

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2
Minicore myopathy.
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Autosomal dominant multicore disease.常染色体显性多核疾病。
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本文引用的文献

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The histographic analysis of human muscle biopsies with regard to fiber types. 1. Adult male and female.关于纤维类型的人类肌肉活检组织学分析。1. 成年男性和女性。
Neurology. 1969 Mar;19(3):221-33. doi: 10.1212/wnl.19.3.221.
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Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.多核病。一种最近被认识到的先天性肌病,与肌纤维的多灶性变性相关。
Mayo Clin Proc. 1971 Oct;46(10):666-81.
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Muscle fibre size in normal infants, children and adolescents. An autopsy study.
J Neurol Sci. 1971 Oct;14(2):171-82. doi: 10.1016/0022-510x(71)90085-2.
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Fixation of ejaculated spermatozoa for electron microscopy.用于电子显微镜检查的射出精子的固定
Nature. 1967 Oct 14;216(5111):173-4. doi: 10.1038/216173a0.
8
An electron microscopic study of target fibers, target-like fibers and related abnormalities in human muscle.
J Neuropathol Exp Neurol. 1969 Apr;28(2):214-28.
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Multicore disease: report of a case with onset in middle age.多核病:一例中年起病病例报告
Neurology. 1974 Nov;24(11):1039-44. doi: 10.1212/wnl.24.11.1039.
10
Electron microscopy of disorders of skeletal muscle.骨骼肌疾病的电子显微镜检查
Ann Clin Lab Sci. 1975 Sep-Oct;5(5):338-47.