Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10196777" target="_blank" >RIV/00064203:_____/13:10196777 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:10196777
Result on the web
<a href="http://dx.doi.org/10.3892/mmr.2013.1730" target="_blank" >http://dx.doi.org/10.3892/mmr.2013.1730</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3892/mmr.2013.1730" target="_blank" >10.3892/mmr.2013.1730</a>

Result language
angličtina
Original language name
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
Original language description
The axonal type of Charcot-Marie-Tooth (CMT) disorders is genetically heterogeneous, therefore the causal mutation is unlikely to be observed, even in clinically well characterized patients. Mitofusin-2 (MFN2) gene mutations are the most frequent cause of axonal CMT disorders in a number of populations. There are two phenotypes; early onset, which is severe and late onset, which is a milder phenotype. A cohort of 139 unrelated Czech patients with axonal neuropathy was selected for sequencing and multiplex ligation-dependent probe amplification analysis (MLPA) testing of the MFN2 gene. A total of 11 MFN2 mutations were detected, with eight pathogenic mutations and three potentially rare benign polymorphisms. MLPA testing in 64 unrelated patients did notdetect any exon duplication or deletion. The frequency of the pathogenic mutations detected in Czech hereditary motor and sensory neuropathy type II (HMSN II) patients was 7.2%. Early onset was more frequent among pathogenic mutation cas
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
—

Project
<a href="/en/project/NS10554" target="_blank" >NS10554: Detection and analysis of mutations in mitofusin 2 gene (MFN2) as the known most common cause of axonal forms of hereditary neuropathies Charcot Marie Tooth (CMT 2).</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)