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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.

作者信息

Freed Amanda S, Weiss Michael D, Malouf Emily A, Hisama Fuki M

机构信息

Medical Genetics and Genomics Residency Program, Washington School of Medicine, University of Washington, Seattle, Washington.

Professor of Neurology and Adjunct Professor of Rehabilitation Medicine, Washington School of Medicine, University of Washington School of Medicine, Seattle, Washington.

出版信息

Muscle Nerve. 2019 Nov;60(5):E28-E30. doi: 10.1002/mus.26658. Epub 2019 Aug 27.

DOI:10.1002/mus.26658

PMID:31397905

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7605170/

Abstract

摘要

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本文引用的文献

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6.

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Eur J Med Genet. 2017 May;60(5):245-249. doi: 10.1016/j.ejmg.2017.02.006. Epub 2017 Feb 27.

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

J Neuropathol Exp Neurol. 2016 Dec 1;75(12):1155-1159. doi: 10.1093/jnen/nlw093.

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.

Analysis of protein-coding genetic variation in 60,706 humans.

Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.

J Neurosci. 2014 Nov 5;34(45):14820-6. doi: 10.1523/JNEUROSCI.3369-14.2014.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10.

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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.

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