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Autor
Brusse, Esther 1 Burnyte, Birute 1 Dobosz, Paula 1 Fajkusová, Lenka 1 Inashkina, Inna 1 Kenina, Victorija 1 Khrunin, Andrey 1 Lace, Baiba 1 Leonardis, Lea 1 Limborska, Svetlana 1 Maver, Ales 1 Micule, Ieva 1 Mroczek, Magdalena 1 Pajusalu, Sander 1 Puusepp, Sanna 1 Stavusis, Janis 1 Sypniewski, Mateusz 1 Zayakin, Pawel 1 Zdanovica, Anna 1 Zídková, Jana 1
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Pracoviště
Biomedical Research and Study Center ... 1 Central Clinical Hospital of Ministry... 1 Centre of Molecular Biology And Genet... 1 Clinical Institute of Medical Genetic... 1 Department of Biology and Microbiolog... 1 Department of Clinical Genetics Insti... 1 Department of Clinical Genetics Unite... 1 Department of Hematology Transplantat... 1 Department of Human and Medical Genet... 1 Department of Neurology Amsterdam Uni... 1 Department of Neurology Erasmus MC Un... 1 Department of Neurology University Me... 1 Department of Neurology and Neurophys... 1 Institute of Molecular Genetics of Na... 1 MNM Diagnostics Sp z o o Poznań Poland 1 Medical Genetics Clinic Children's Cl... 1 Rare Disease Center Riga East Clinica... 1
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Autor
Brusse, Esther 1 Burnyte, Birute 1 Dobosz, Paula 1 Fajkusová, Lenka 1 Inashkina, Inna 1 Kenina, Victorija 1 Khrunin, Andrey 1 Lace, Baiba 1 Leonardis, Lea 1 Limborska, Svetlana 1 Maver, Ales 1 Micule, Ieva 1 Mroczek, Magdalena 1 Pajusalu, Sander 1 Puusepp, Sanna 1 Stavusis, Janis 1 Sypniewski, Mateusz 1 Zayakin, Pawel 1 Zdanovica, Anna 1 Zídková, Jana 1
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Pracoviště
Biomedical Research and Study Center ... 1 Central Clinical Hospital of Ministry... 1 Centre of Molecular Biology And Genet... 1 Clinical Institute of Medical Genetic... 1 Department of Biology and Microbiolog... 1 Department of Clinical Genetics Insti... 1 Department of Clinical Genetics Unite... 1 Department of Hematology Transplantat... 1 Department of Human and Medical Genet... 1 Department of Neurology Amsterdam Uni... 1 Department of Neurology Erasmus MC Un... 1 Department of Neurology University Me... 1 Department of Neurology and Neurophys... 1 Institute of Molecular Genetics of Na... 1 MNM Diagnostics Sp z o o Poznań Poland 1 Medical Genetics Clinic Children's Cl... 1 Rare Disease Center Riga East Clinica... 1
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Dobosz, Paula OR 0000000251340975 Dotaz Zobrazit nápovědu
NLK
Medline Complete (EBSCOhost)
od 2012-07-01
PubMed
35731190
DOI
10.1002/humu.24421
Knihovny.cz E-zdroje
The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the CAPN3 c.1746-20C>G variant in trans position with another CAPN3 pathogenic/likely pathogenic variant. The patients compound heterozygous for the CAPN3 c.1746-20C>G variant presented a phenotype consistent with calpainopathy of mild/medium severity. This variant is most frequent in the North/West regions of Russia and may originate from that area. Molecular studies revealed that different splicing isoforms are produced in the muscle. We hypothesize that c.1746-20C>G is a hypomorphic variant with a reduction of RNA and protein expression and only individuals having a higher ratio of abnormal isoforms are affected. Reclassification of the CAPN3 variant c.1746-20C>G from variant with a conflicting interpretation of pathogenicity to hypomorphic variant explains many unidentified cases of limb girdle muscular dystrophy R1 calpain 3-related in Eastern and Central Europe.
- MeSH
- kalpain * genetika MeSH
- lidé MeSH
- mutace MeSH
- pletencové svalové dystrofie * genetika MeSH
- sestřih RNA MeSH
- svalové proteiny * genetika MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
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