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[僵硬脊柱综合征中的多微小核疾病]

[Multiminicore disease in a rigid spine syndrome].

作者信息

Ben Hamida M, Hentati F, Ben Hamida C

出版信息

Rev Neurol (Paris). 1987;143(4):284-9.

PMID:3629076
Abstract

The case of a 15 year-old girl, who had difficulties in walking from early childhood is reported. The clinical picture was that of the rigid spine syndrome, spine rigidity being associated with retractions and diffuse amyotrophy of the upper limbs. Histochemical and ultra-structural studies of the muscle showed typical multiminicores. The multiminicore myopathy has not particular clinical features. In the rigid spine syndrome various histological changes can be found. For these reasons, we think that the rigid spine syndrome should be classified within the group of congenital myopathies.

摘要

报告了一名15岁女孩的病例,该女孩自幼行走困难。临床表现为僵硬脊柱综合征,脊柱僵硬伴有上肢回缩和弥漫性肌萎缩。肌肉的组织化学和超微结构研究显示典型的多微小核。多微小核肌病没有特殊的临床特征。在僵硬脊柱综合征中可发现各种组织学变化。基于这些原因,我们认为僵硬脊柱综合征应归类于先天性肌病组。

相似文献

1
[Multiminicore disease in a rigid spine syndrome].[僵硬脊柱综合征中的多微小核疾病]
Rev Neurol (Paris). 1987;143(4):284-9.
2
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.先天性肌营养不良伴刚性脊柱综合征:一项临床、病理、放射学及遗传学研究
Ann Neurol. 2000 Feb;47(2):152-61.
3
[Congestive cardiomyopathy associated with a stiff spinal column. "Rigid spine syndrome"].[与僵硬脊柱相关的充血性心肌病。“僵硬脊柱综合征”]
Arch Mal Coeur Vaiss. 1981 Aug;74(8):985-91.
4
Multiminicore disease with respiratory failure.多发性肌病伴呼吸衰竭。
Pediatr Neurol. 2011 Apr;44(4):295-8. doi: 10.1016/j.pediatrneurol.2010.11.011.
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Chronic hepatitis in a patient with rigid spine myopathy: cause or just an association?僵硬性脊柱肌病患者的慢性肝炎:病因还是仅仅为一种关联?
Turk J Gastroenterol. 2014 Feb;25(1):113-5. doi: 10.5152/tjg.2014.3580.
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[The rigid spinal column syndrome. Aspects of hypotrophy and predominance of type I muscular fibers].[僵硬脊柱综合征。I型肌纤维萎缩及优势化方面]
Arch Fr Pediatr. 1986 Feb;43(2):115-8.
7
[A case of rigid spine syndrome with congenital cardiac abnormality of sinus venosus defect].[1例合并静脉窦缺损先天性心脏异常的僵硬脊柱综合征病例]
Rinsho Shinkeigaku. 1995 Feb;35(2):204-7.
8
[Rigid-spine syndrome in a female patient (author's transl)].一名女性患者的刚性脊柱综合征(作者译)
Rev Neurol (Paris). 1982;138(1):25-37.
9
Rigid spine syndrome. Some evidence of varying pathological patterns.僵硬脊柱综合征。存在不同病理模式的一些证据。
Helv Paediatr Acta. 1983 Oct;38(4):367-72.
10
Congenital muscular dystrophy and rigid spine syndrome.先天性肌营养不良和僵硬脊柱综合征。
Neuropediatrics. 1983 May;14(2):97-101. doi: 10.1055/s-2008-1059561.

引用本文的文献

1
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.与刚性脊柱肌营养不良相关的硒蛋白N基因突变会导致多微小核病的典型表型:重新评估早发性肌病的分类学。
Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21.
2
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.1号染色体p35 - 36区域上一种伴有脊柱早期僵硬的特殊形式先天性肌营养不良新基因座的鉴定。
Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882.
3
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.
伴有神经源性面肩胛腓骨肌萎缩的家族性常染色体隐性遗传性僵硬脊柱综合征
J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42.