Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy-Reference-Cited by-同舟云学术

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Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy

Published:2011-10-17 Issue:5 Volume:44 Page:819-821
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Brožková Dana,Mazanec Radim,Rychlý Zdeněk,Haberlová Jana,Böhm Jiří,Staněk Jan,Plevová Pavlína,Lisoňová Jana,Sabová Jana,Sakmaryová Iva,Seeman Pavel

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.22189/fullpdf

Reference17 articles.

1. DNA duplication associated with Charcot-Marie-Tooth disease type 1A;Lupski;Cell,1991

2. DNA deletion associated with hereditary neuropathy with liability to pressure palsies;Chance;Cell,1993

3. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies;Li;Muscle Nerve,2004

4. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study;Nelis;Eur J Hum Genet,1996

5. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene;Roa;Nat Genet,1993

Cited by 7 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. Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light;neurogenetics;2023-08-22

2. Noncanonical splice‐site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies;Journal of the Peripheral Nervous System;2023-05-22

3. A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP;Journal of Neuromuscular Diseases;2020-09-18

4. Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease;Frontiers in Neurology;2020-07-03

5. Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy;Neuropathology;2019-11-27

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