Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication-Reference-Cited by-同舟云学术

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Published:2003-10 Issue:10 Volume:36 Page:1403-1407
ISSN:0100-879X
Container-title:Brazilian Journal of Medical and Biological Research
language:
Short-container-title:Braz J Med Biol Res

Author:

Marques Jr. W.¹,Sweeney M.G.²,Wood N.W.²

Affiliation:

1. Universidade de São Paulo, Brasil

2. Institute of Neurology, UK

Publisher

FapUNIFESP (SciELO)

Subject

Cell Biology,General Pharmacology, Toxicology and Pharmaceutics,General Medicine,Immunology,Physiology,Biochemistry,General Neuroscience,Biophysics

Link

http://www.scielo.br/pdf/bjmbr/v36n10/4814.pdf

Reference9 articles.

1. Charcot-Marie-Tooth disease and related inherited neuropathies;Murakami T;Medicine,1996

2. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A;Roa BB;Nature Genetics,1993

3. The hemizygous Thr118Met amino acid exchange in peripheral myelin protein 22: recessive Charcot-Marie-Tooth (CMT) disease type 1 mutation or polymorphism?;Bathke KD;American Journal of Human Genetics,1996

4. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?;Nelis E;Nature Genetics,1997

5. Charcot-Marie-Tooth 1A: Heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype;Seeman P;Annals of the New York Academy of Sciences,1999

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1. T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature;Case Reports in Genetics;2018-12-25

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3. Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes;neurogenetics;2009-08-25

4. Mutational analysis ofGJB1,MPZ,PMP22,EGR2, andLITAF/SIMPLEin Serbian Charcot-Marie-Tooth patients;Journal of the Peripheral Nervous System;2009-06

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