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Congenital muscular dystrophies.

作者信息

Arahata K, Ishii H, Hayashi Y K

机构信息

Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.

出版信息

Curr Opin Neurol. 1995 Oct;8(5):385-90. doi: 10.1097/00019052-199510000-00011.

DOI:10.1097/00019052-199510000-00011
PMID:8542045
Abstract

Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it has been postulated that Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome (but not Finnish muscle-eye-brain disease) are genetically identical diseases.

摘要

相似文献

1
Congenital muscular dystrophies.
Curr Opin Neurol. 1995 Oct;8(5):385-90. doi: 10.1097/00019052-199510000-00011.
2
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.骨骼肌中肌纤连蛋白M链(或层粘连蛋白α2)表达的保留可将沃克-沃尔堡综合征与福山型肌营养不良症及肌纤连蛋白缺乏型先天性肌营养不良症区分开来。
Neuropediatrics. 1995 Jun;26(3):148-55. doi: 10.1055/s-2007-979745.
3
Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children.儿童先天性肌营养不良伴层粘连蛋白α2完全缺乏、皮质发育异常和脑白质改变
J Child Neurol. 1998 Jun;13(6):253-6. doi: 10.1177/088307389801300602.
4
Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.沃克-沃尔堡综合征在遗传上与福山型先天性肌营养不良不同。
J Neurol Sci. 2000 Aug 15;177(2):150-3. doi: 10.1016/s0022-510x(00)00328-2.
5
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.伴有智力发育迟缓、小头畸形和中枢神经系统异常的merosin阳性先天性肌营养不良,与福山型肌营养不良和肌肉-眼-脑基因座无关:三例同胞报告
Neuromuscul Disord. 2001 Sep;11(6-7):570-8. doi: 10.1016/s0960-8966(01)00199-7.
6
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.沃克-沃尔堡综合征骨骼肌中的基底膜异常。
Pediatr Neurol. 2000 Feb;22(2):139-43. doi: 10.1016/s0887-8994(99)00129-0.
7
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.伴有拇指内收、上睑下垂、眼球外肌麻痹、智力发育迟缓及小脑发育不全的先天性肌营养不良:一种新型先天性肌营养不良。
Neuromuscul Disord. 2002 Oct;12(7-8):623-30. doi: 10.1016/s0960-8966(02)00018-4.
8
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?福山型先天性肌营养不良和层粘连蛋白α2缺乏型先天性肌营养不良肌肉的表达谱分析;先天性肌营养不良是原发性纤维化疾病吗?
Biochem Biophys Res Commun. 2006 Apr 7;342(2):489-502. doi: 10.1016/j.bbrc.2005.12.224. Epub 2006 Feb 3.
9
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency.
Neurology. 1996 May;46(5):1354-8. doi: 10.1212/wnl.46.5.1354.
10
Congenital myopathies and congenital muscular dystrophies.先天性肌病和先天性肌营养不良症。
Curr Opin Neurol. 2001 Oct;14(5):575-82. doi: 10.1097/00019052-200110000-00005.

引用本文的文献

1
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle.肌营养不良蛋白缺乏症骨骼肌中炎性体的上调和激活。
Am J Pathol. 2010 Jun;176(6):2891-900. doi: 10.2353/ajpath.2010.090058. Epub 2010 Apr 22.
2
Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI.缺乏merosin的先天性肌营养不良(CMD):对25名巴西患者进行的MRI研究。
Pediatr Radiol. 2005 Jun;35(6):572-9. doi: 10.1007/s00247-004-1398-y. Epub 2005 Mar 5.
3
Laminin expression in adult and developing retinae: evidence of two novel CNS laminins.
层粘连蛋白在成年和发育中的视网膜中的表达:两种新型中枢神经系统层粘连蛋白的证据。
J Neurosci. 2000 Sep 1;20(17):6517-28. doi: 10.1523/JNEUROSCI.20-17-06517.2000.
4
Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS.层粘连蛋白β2链产生的破坏会导致中枢神经系统的形态和功能发生改变。
J Neurosci. 1999 Nov 1;19(21):9399-411. doi: 10.1523/JNEUROSCI.19-21-09399.1999.
5
The role of laminins in basement membrane function.层粘连蛋白在基底膜功能中的作用。
J Anat. 1998 Jul;193 ( Pt 1)(Pt 1):1-21. doi: 10.1046/j.1469-7580.1998.19310001.x.
6
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models.缺乏merosin的先天性肌营养不良。两种小鼠模型中的部分基因校正。
J Clin Invest. 1998 Aug 15;102(4):844-52. doi: 10.1172/JCI3705.
7
Investigation of muscle disease.肌肉疾病的调查
J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. doi: 10.1136/jnnp.60.3.256.