因突变导致的先天性肌营养不良表现为心源性栓塞性中风。 - Suppr

Congenital Muscular Dystrophy due to Mutation Presenting as Cardioembolic Stroke.

作者信息

Iype Mary, Mithran Omana Surendran, Ayyappan Anitha, Iype Mathew

机构信息

Department of Pediatric Neurology, Government Medical College, Thiruvananthapuram, Kerala, India.

Senior Consultant Radiologist, HIND LABS, Medical College Campus, Thiruvananthapuram, Kerala, India.

出版信息

Ann Indian Acad Neurol. 2022 May-Jun;25(3):551-553. doi: 10.4103/aian.aian_944_21. Epub 2022 Apr 25.

DOI:10.4103/aian.aian_944_21

PMID:35936628

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9350751/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa9/9350751/922d70bc67e1/AIAN-25-551-g001.jpg

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本文引用的文献

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.

Sci Rep. 2017 Aug 1;7(1):7056. doi: 10.1038/s41598-017-07349-8.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.

Neuromuscul Disord. 2012 Aug;22(8):685-9. doi: 10.1016/j.nmd.2012.05.006. Epub 2012 Jun 22.

A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation.

Int J Exp Pathol. 2008 Oct;89(5):332-41. doi: 10.1111/j.1365-2613.2008.00599.x.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2.

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

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POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

Neurology. 2004 Mar 23;62(6):1009-11. doi: 10.1212/01.wnl.0000115386.28769.65.

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Neurology. 2003 Mar 25;60(6):988-92. doi: 10.1212/01.wnl.0000052996.14099.dc.

Incidence of cerebral infarction in Duchenne muscular dystrophy.

Muscle Nerve. 1996 Jul;19(7):928.

Frequency of cerebral infarction in patients with inherited neuromuscular diseases.

Stroke. 1987 Jul-Aug;18(4):805-7. doi: 10.1161/01.str.18.4.805.

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Congenital Muscular Dystrophy due to Mutation Presenting as Cardioembolic Stroke.

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Congenital Muscular Dystrophy due to Mutation Presenting as Cardioembolic Stroke.

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