Experiences in the molecular genetic and histopathological evaluation of calpainopathies

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dc.authoridSAKA GÜVENC, merve/0000-0001-8842-0381
dc.authoridOzyilmaz, Berk/0000-0003-2654-3698
dc.authoridDiniz, Gulden/0000-0003-1512-7584
dc.authoridÖZDEMİR, TAHA RESID/0000-0003-4870-6945
dc.authorwosidSAKA GÜVENC, merve/HJI-1076-2023
dc.authorwosidOzyilmaz, Berk/U-5685-2019
dc.authorwosidDiniz, Gulden/HKM-3640-2023
dc.authorwosidSözen Türk, Tuba/HJI-7076-2023
dc.authorwosidÖZDEMİR, TAHA RESID/I-6761-2015
dc.contributor.authorOzyilmaz, Berk
dc.contributor.authorKirbiyik, Ozgur
dc.contributor.authorOzdemir, Taha R.
dc.contributor.authorOzer, Ozge Kaya
dc.contributor.authorKutbay, Yasar B.
dc.contributor.authorErdogan, Kadri M.
dc.contributor.authorGuvenc, Merve Saka
dc.date.accessioned2023-03-22T19:47:27Z
dc.date.available2023-03-22T19:47:27Z
dc.date.issued2022
dc.departmentBelirleneceken_US
dc.description.abstractCalpainopathy 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 causes major difficulties in predicting the prognosis in asymptomatic patients and in providing genetic counseling for prenatal diagnosis. In this report, we aimed to add new data to the literature by evaluating 37 patients with likely pathogenic/pathogenic variants for the detected variants' nature, patients' phenotypes, and histopathological features. As a result, the general clinical presentation of the 23 different variants was presented, the high frequency of NM_000070.3:c.550delA mutation in Exon 4 was discussed, and some novel genotype-phenotype associations were suggested. We have underlined that calpainopathy can be misdiagnosed with inflammatory myopathies histopathologically. We have also emphasized that, in young or adult patients with mild to moderate proximal muscle weakness and elevated CK levels, calpainopathy should be the first suspected diagnosis.en_US
dc.identifier.doi10.1007/s10048-022-00687-4
dc.identifier.endpage114en_US
dc.identifier.issn1364-6745
dc.identifier.issn1364-6753
dc.identifier.issue2en_US
dc.identifier.pmid35157181en_US
dc.identifier.scopus2-s2.0-85124723320en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage103en_US
dc.identifier.urihttps://doi.org/10.1007/s10048-022-00687-4
dc.identifier.urihttps://hdl.handle.net/20.500.14034/713
dc.identifier.volume23en_US
dc.identifier.wosWOS:000755001000001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.journalNeurogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLGMDen_US
dc.subjectCalpainopathyen_US
dc.subjectNGSen_US
dc.subjectCAPN3en_US
dc.subjectHistopathologyen_US
dc.subjectMuscular-Dystrophy 2aen_US
dc.subjectLgmd2aen_US
dc.subjectFrequencyen_US
dc.subjectMutationsen_US
dc.titleExperiences in the molecular genetic and histopathological evaluation of calpainopathiesen_US
dc.typeArticleen_US

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