Article
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Human mutation - 1 Oct 2022
Mroczek Magdalena, Inashkina Inna, Stavusis Janis, Zayakin Pawel, Khrunin Andrey, Micule Ieva, Kenina Victorija, Zdanovica Anna, Zídková Jana, Fajkusová Lenka, Limborska Svetlana, van der Kooi Anneke J, Brusse Esther, Leonardis Lea, Maver Ales, Pajusalu Sander, Õunap Katrin, Puusepp Sanna, Dobosz Paula, Sypniewski Mateusz, Burnyte Birute, Lace Baiba
Abstract excerpt
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...
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