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Congenital fibre type disproportion with unusual clinico-pathologic manifestations.

作者信息

Sulaiman A R, Swick H M, Kinder D S

出版信息

J Neurol Neurosurg Psychiatry. 1983 Feb;46(2):175-82. doi: 10.1136/jnnp.46.2.175.

DOI:10.1136/jnnp.46.2.175
PMID:6842223
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1027302/
Abstract

Two cases with congenital fibre type disproportion are presented. The cases are unusual in that there were significant dysmorphic features in case 1, and both cases showed electromyographic abnormalities suggestive of denervation. A third case, the father of the second patient, showed clinical features of congenital fibre type disproportion in early life but later developed the rigid spine syndrome. The spinal cord of case 3 showed atrophy and degeneration of medial neuronal group in the lumbosacral segments. The clinical and pathological features in these cases further extend the view that congenital fibre type disproportion may be seen in a variety of patients.

摘要

相似文献

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Congenital fibre type disproportion with unusual clinico-pathologic manifestations.
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引用本文的文献

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Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy.先天性肌纤维类型比例失调性肌病患者的严重胰岛素抵抗型糖尿病
J Clin Invest. 1995 Apr;95(4):1925-32. doi: 10.1172/JCI117874.
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The rigid spine syndrome.僵硬脊柱综合征
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本文引用的文献

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Clinical variability in congenital fiber type disproportion.
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Muscle fiber types: how many and what kind?肌纤维类型：有多少种以及是哪些类型？
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Lumbar motoneurons of man II: the number and diameter distribution of large- and intermediate-diameter cytons in "motoneuron columns" of spinal cord of man.
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