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伴有不稳定髓鞘的婴儿神经病:P0蛋白研究

Infantile neuropathy with unstable myelin: study of the P0 protein.

作者信息

Peudenier S, Deleuze J F, Pham-Dinh D, Lacroix C, Boulloche J, Landrieu P

机构信息

Service de Neuropédiatrie, CHU de Bicêtre, Le Kremlin-Bicêtre, France.

出版信息

J Neurol. 1993 May;240(5):291-4. doi: 10.1007/BF00838164.

DOI:10.1007/BF00838164
PMID:7686967
Abstract

An unusual form of hereditary motor and sensory neuropathy characterized by a prominent disruption of the myelin lamellae is reported. In addition to detailed morphological analysis, we investigated the protein P0, which is the major protein of peripheral myelin involved in adhesion. No major gene rearrangement and no differences in P0 protein expression were observed in the present case.

摘要

据报道,一种以髓鞘板层显著破坏为特征的遗传性运动和感觉神经病的不寻常形式。除了详细的形态学分析外,我们还研究了蛋白P0,它是参与黏附的周围髓鞘的主要蛋白。在本病例中未观察到主要基因重排,且P0蛋白表达无差异。

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Infantile neuropathy with unstable myelin: study of the P0 protein.伴有不稳定髓鞘的婴儿神经病:P0蛋白研究
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引用本文的文献

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本文引用的文献

1
Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children. Ultrastructural and morphometric studies on sural nerve biopsy specimens from ten sporadic cases.儿童脱髓鞘和再髓鞘化型遗传性运动和感觉神经病。对10例散发病例腓肠神经活检标本的超微结构和形态计量学研究。
Acta Neuropathol. 1984;65(1):1-9. doi: 10.1007/BF00689822.
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The PO glycoprotein of peripheral nerve myelin.周围神经髓鞘的PO糖蛋白。
Can J Biochem. 1980 Oct;58(10):913-21. doi: 10.1139/o80-125.
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Congenital hypo- and hypermyelination neuropathy. Two cases.
先天性髓鞘形成不足和过度髓鞘形成神经病。两例报告。
Acta Neuropathol. 1987;74(2):197-201. doi: 10.1007/BF00692853.
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The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.遗传性运动和感觉神经病的肥厚型。儿童肥厚性夏科-马里-图斯病(I型遗传性运动感觉神经病)和德热里纳-索塔斯病(III型遗传性运动感觉神经病)的研究。
Brain. 1987 Feb;110 ( Pt 1):121-48. doi: 10.1093/brain/110.1.121.
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Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding.常染色体隐性遗传性运动和感觉神经病伴髓鞘过度折叠
Muscle Nerve. 1989 Jul;12(7):568-75. doi: 10.1002/mus.880120707.
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Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin.外周髓鞘主要结构蛋白编码cDNA的分离与测序
Cell. 1985 Mar;40(3):501-8. doi: 10.1016/0092-8674(85)90198-9.
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Isolation and analysis of the gene encoding peripheral myelin protein zero.
Neuron. 1988 Mar;1(1):73-83. doi: 10.1016/0896-6273(88)90211-5.
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Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.伴有局灶性折叠髓鞘的先天性脱髓鞘运动和感觉神经病。
Brain. 1990 Dec;113 ( Pt 6):1629-43. doi: 10.1093/brain/113.6.1629.
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Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin.人外周髓磷脂主要结构蛋白编码cDNA的分离与序列测定
Biochem Biophys Res Commun. 1991 Oct 31;180(2):515-8. doi: 10.1016/s0006-291x(05)81094-0.
10
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.佩利措伊斯-梅茨巴赫病:髓鞘蛋白脂蛋白假定细胞外环中的缬氨酸到苯丙氨酸点突变。
Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7562-6. doi: 10.1073/pnas.88.17.7562.