Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants
Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP)...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2023
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| Sorozat: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
24 No. 13 |
| Tárgyszavak: | |
| doi: | 10.3390/ijms241310745 |
| mtmt: | 34075230 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/28020 |
| LEADER | 02246nab a2200325 i 4500 | ||
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| 024 | 7 | |a 10.3390/ijms241310745 |2 doi | |
| 024 | 7 | |a 34075230 |2 mtmt | |
| 040 | |a SZTE Publicatio Repozitórium |b hun | ||
| 041 | |a Angol | ||
| 100 | 1 | |a Salamon András | |
| 245 | 1 | 0 | |a Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants |h [elektronikus dokumentum] / |c Salamon András |
| 260 | |c 2023 | ||
| 300 | |a 10 | ||
| 490 | 0 | |a INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |v 24 No. 13 | |
| 520 | 3 | |a Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region. © 2023 by the authors. | |
| 650 | 4 | |a Általános orvostudomány | |
| 700 | 0 | 1 | |a Nagy Zsófia Flóra |e aut |
| 700 | 0 | 1 | |a Pál Margit |e aut |
| 700 | 0 | 1 | |a Szabó Máté |e aut |
| 700 | 0 | 1 | |a Csősz Ádám |e aut |
| 700 | 0 | 1 | |a Szpisjak László |e aut |
| 700 | 0 | 1 | |a Gárdián Gabriella |e aut |
| 700 | 0 | 1 | |a Zádori Dénes |e aut |
| 700 | 0 | 1 | |a Széll Márta |e aut |
| 700 | 0 | 1 | |a Klivényi Péter |e aut |
| 856 | 4 | 0 | |u http://publicatio.bibl.u-szeged.hu/28020/1/SalamonA.-GenetingscreeningofaHungarianCohortwithFocalDystonia....pdf |z Dokumentum-elérés |