CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related

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 a...

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Veröffentlicht in:	Human mutation 2022-10, Vol.43 (10), p.1347-1353
Hauptverfasser:	Mroczek, Magdalena, Inashkina, Inna, Stavusis, Janis, Zayakin, Pawel, Khrunin, Andrey, Micule, Ieva, Kenina, Victorija, Zdanovica, Anna, Zídková, Jana, Fajkusová, Lenka, Limborska, Svetlana, Kooi, Anneke J., Brusse, Esther, Leonardis, Lea, Maver, Ales, Pajusalu, Sander, Õunap, Katrin, Puusepp, Sanna, Dobosz, Paula, Sypniewski, Mateusz, Burnyte, Birute, Lace, Baiba
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Calpain calpainopathy CAPN3 hypomorphic variant Isoforms LGMD LGMD R1 calpain 3‐related Muscular dystrophy Pathogenicity Phenotypes Reclassification
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