Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
Ozyilmaz B, Kirbiyik O, Ozdemir TR, Ozer OK, Kutbay YB, Erdogan KM, Guvenc MS, Arıkan Ş, Turk TS, Kale MY, Uludag IF, Baydan F, Sertpoyraz F, Gencpinar P, Diniz G.
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Neurogenetics. 2022 Apr;23(2):103-114. doi: 10.1007/s10048-022-00687-4. Epub 2022 Feb 14.
Neurogenetics. 2022.
PMID: 35157181
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 causes major difficulties in predicting the prognosis in asymptomatic patients and in …
Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported. However, a clear genotype-phenot …