Article
Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
Neurogenetics - 1 Apr 2022
Ozyilmaz Berk, Kirbiyik Ozgur, Ozdemir Taha R, Ozer Ozge Kaya, Kutbay Yasar B, Erdogan Kadri M, Guvenc Merve Saka, Arıkan Şener, Turk Tuba Sozen, Kale Murat Yıldırım, Uludag Irem Fatma, Baydan Figen, Sertpoyraz Filiz, Gencpinar Pinar, Diniz Gulden
Abstract excerpt
Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A. Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported. However, a clear genotype-phenotype association had not yet been established and this...
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