A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene-Reference-Cited by-同舟云学术

A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene

Published:2019-03-28 Issue:2 Volume:24 Page:219-223
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Tozza Stefano¹,Magri Stefania²,Pennisi Elena Maria³,Schirinzi Erika⁴,Pisciotta Chiara¹,Balistreri Francesca²,Severi Daniele¹,Ricci Giulia⁴,Siciliano Gabriele⁴,Taroni Franco²,Santoro Lucio¹,Manganelli Fiore¹

Affiliation:

1. Department of Neuroscience, Reproductive Sciences and OdontostomatologyUniversity of Naples “Federico II” Naples Italy

2. Department of Diagnostics and Technology, Unit of Medical Genetics and NeurogeneticsFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

3. Neurology UnitSan Filippo Neri Hospital Rome Italy

4. Department of Clinical and Experimental MedicineUniversity of Pisa Pisa Italy

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12314

Reference20 articles.

1. EGR2 Mutations in Inherited Neuropathies Dominant-Negatively Inhibit Myelin Gene Expression

2. A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy

3. Mutation in the early growth response 2 (EGR2) transcription factor associated with recessive congenital hypomyelinating neuropathy (CHN);Warner LE;Am J Hum Genet,1997

4. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

5. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

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