Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10380572" target="_blank" >RIV/00216208:11110/18:10380572 - isvavai.cz</a>
Alternative codes found
RIV/61989592:15120/18:73590552 RIV/00064165:_____/18:10380572
Result on the web
<a href="http://dx.doi.org/10.1080/13554794.2018.1506038" target="_blank" >http://dx.doi.org/10.1080/13554794.2018.1506038</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/13554794.2018.1506038" target="_blank" >10.1080/13554794.2018.1506038</a>
Alternative languages
Result language
angličtina
Original language name
Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review
Original language description
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an autosomal recessive disorder caused by mutation in the C19orf12 gene. We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. Gradually, he developed dysarthria, spastic-dystonic gait, pedes cavi, and atrophy of leg muscles. Additionally, we report demographic parameters, clinical signs, and allelic frequencies of C19orf12 mutations of all published MPAN cases. We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV15-25602A" target="_blank" >NV15-25602A: Biomarkers of progression and treatment response in neurodegenerative disorders</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurocase
ISSN
1355-4794
e-ISSN
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Volume of the periodical
24
Issue of the periodical within the volume
3
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
161-165
UT code for WoS article
000445876300006
EID of the result in the Scopus database
2-s2.0-85052057469