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CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: limborska s. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.
Pogoda TV, Krakhmaleva IN, Lipatova NA, Shakhovskaya NI, Shishkin SS, Limborska SA. Pogoda TV, et al. Among authors: limborska sa. Hum Mutat. 2000 Mar;15(3):295. doi: 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU15>3.0.CO;2-8. Hum Mutat. 2000. PMID: 10679950
Mitochondrial DNA variations in Russian and Belorussian populations.
Belyaeva O, Bermisheva M, Khrunin A, Slominsky P, Bebyakova N, Khusnutdinova E, Mikulich A, Limborska S. Belyaeva O, et al. Among authors: limborska s. Hum Biol. 2003 Oct;75(5):647-60. doi: 10.1353/hub.2003.0069. Hum Biol. 2003. PMID: 14763602
157 results