Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C; [Kavşak tipi müsküler distrofi tip 2C hastalari{dotless}ni{dotless}n histopatolojik ve genetik özellikleri]

Simple item page
dc.contributor.authorDiniz G.
dc.contributor.authorHazan F.
dc.contributor.authorTosun Yildirim H.
dc.contributor.authorÜnalp A.
dc.contributor.authorPolat M.
dc.contributor.authorSerdaroǧlu G.
dc.contributor.authorGüzel O.
dc.contributor.authorBaǧ Ö.
dc.contributor.authorSeçIl Y.
dc.contributor.authorÖzgönül F.
dc.contributor.authorTüre S.
dc.contributor.authorAkhan G.
dc.contributor.authorTükün A.
dc.date.accessioned2024-07-22T08:17:18Z
dc.date.available2024-07-22T08:17:18Z
dc.date.issued2014
dc.description.abstractObjective: In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. Material and Method: We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and biopsy materials were collected from five different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood samples of patients and genetic tests (mutation analyses for gamma sarcoglycan gene and deletion-duplication analyses for all 4 sarcoglycan genes) were performed. Results: The mean age of the patients was 7.6 years (2 -21 years). Only one case (5%) was older than 14 years. The mean CPK level was 10311 U/L (1311 - 35000 U/L). There were 4 siblings in these series. Expression defects of gamma sarcoglycan staining were determined in (15 males, and 5 females) all patients with muscle biopsy specimens. But only in 9 of them, disease-causing defects could be determined with genetic analyses. Conclusion: The present study has demonstrated that both examination of muscle biopsy specimens and DNA analysis remain important methods in the differential diagnosis of muscular dystrophies. Because dystrophinopathies and sarcoglycanopathies have similar clinical manifestation.
dc.identifier.DOI-ID10.5146/tjpath.2014.01239
dc.identifier.issn10185615
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/17026
dc.language.isoEnglish
dc.publisherFederation of Turkish Pathology Societies
dc.rightsAll Open Access; Gold Open Access
dc.subjectAdolescent
dc.subjectAmino Acid Sequence
dc.subjectBase Sequence
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectDNA
dc.subjectDNA Mutational Analysis
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectMolecular Sequence Data
dc.subjectMuscle, Skeletal
dc.subjectPolymerase Chain Reaction
dc.subjectRetrospective Studies
dc.subjectSarcoglycanopathies
dc.subjectSarcoglycans
dc.subjectYoung Adult
dc.subjectalpha sarcoglycan
dc.subjectaspartate aminotransferase
dc.subjectbeta sarcoglycan
dc.subjectcreatine kinase
dc.subjectdelta sarcoglycan
dc.subjectgamma sarcoglycan
dc.subjectgenomic DNA
dc.subjectDNA
dc.subjectsarcoglycan
dc.subjectadolescent
dc.subjectadult
dc.subjectarticle
dc.subjectchild
dc.subjectclinical article
dc.subjectcontrolled study
dc.subjectDNA extraction
dc.subjectelectromyography
dc.subjectfemale
dc.subjectgamma sarcoglycan gene
dc.subjectgastrocnemius muscle
dc.subjectgene
dc.subjectgene mutation
dc.subjectgene sequence
dc.subjectgenetic analysis
dc.subjectgenetic disorder
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectimmunohistochemistry
dc.subjectlimb girdle muscular dystrophy
dc.subjectmale
dc.subjectmultiplex ligation dependent probe amplification
dc.subjectmuscle biopsy
dc.subjectnerve conduction
dc.subjectphenotype
dc.subjectpolymerase chain reaction
dc.subjectpreschool child
dc.subjectschool child
dc.subjectsibling
dc.subjectyoung adult
dc.subjectamino acid sequence
dc.subjectgenetics
dc.subjectmolecular genetics
dc.subjectnucleotide sequence
dc.subjectpathology
dc.subjectretrospective study
dc.subjectsarcoglycanopathy
dc.subjectskeletal muscle
dc.titleHistopathological and genetic features of patients with limb girdle muscular dystrophy type 2C; [Kavşak tipi müsküler distrofi tip 2C hastalari{dotless}ni{dotless}n histopatolojik ve genetik özellikleri]
dc.typeArticle

Files

Collections

Scopus Koleksiyonu