New Mutation in Periaxin Gene Causing Charcot Marie Tooth Disease in a Puerto Rican Young Male
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology,General Medicine
Reference11 articles.
1. . Periaxin mutations cause recessive Dejerine-Sottas neuropathy.;Boerkoel;Am J Hum Genet,2001
2. Ravise [Combining Acute Accent]N, et al.. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.;Guilbot;Hum Mol Genet,2001
3. ; Ad Hoc Working Group of the Peripheral Nervous System Study Group. Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies.;Crespi;Ital J Neurol Sci,1999
4. Charcot-Marie-Tooth disease and related genetic neuropathies.;Patzko;Continuum (Minneap Minn),2012
5. . Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment.;Gillespie;Neuron,1994
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands;Wellcome Open Research;2018-03-01
2. Identification of aPRXvariant in a Chinese family with congenital cataract by exome sequencing;QJM;2016-04-13
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