Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A11433" target="_blank" >RIV/00216208:11110/12:11433 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/12:8229 RIV/00064203:_____/12:8229 RIV/00064165:_____/12:11433
Result on the web
<a href="http://dx.doi.org/10.1016/j.nmd.2012.04.002" target="_blank" >http://dx.doi.org/10.1016/j.nmd.2012.04.002</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family
Original language description
Charcot-Marie-Tooth neuropathies (CMT) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. Selection of candidate disease genes for mutation analysis is sometimes difficult since more than 40 genes and lociare known to be associated with CMT neuropathies. Hence a Czech family Cz-CMT with demyelinating type of autosomal dominant CMT disease was investigated by genome-wide linkage analysis by means of single-nucleotide polymorphism (SNP) arrays. Among 35 regions with linkage, five carried known CMT genes. In the final result a novel early growth response 2 missense mutation c.1235 A>G, p.Glu412Gly was found. Surprisingly, the more severely affected proband carried an additional heterozygous myelin proteinzero variant p.Asp246Asn detected previously, which may modify the phenotype. However, this MPZ variant is benign in heterozygous state alone, because it is also carried by the patient's healthy father.
Czech name
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Czech description
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Classification
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
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neuromuscular Disorders
ISSN
0960-8966
e-ISSN
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Volume of the periodical
22
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
742-746
UT code for WoS article
000307619900009
EID of the result in the Scopus database
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