SARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENE

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dc.contributor.authorDiniz, G.
dc.contributor.authorTekgul, H.
dc.contributor.authorHazan, F.
dc.contributor.authorYararbas, K.
dc.contributor.authorTukun, A.
dc.date.accessioned2019-10-27T22:28:47Z
dc.date.available2019-10-27T22:28:47Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractLimb-girdle muscular dystrophy type 2E (LG-MD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with beta sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in the SCGB gene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.en_US
dc.identifier.doi10.1515/bjmg-2015-0088en_US
dc.identifier.endpage75en_US
dc.identifier.issn1311-0160
dc.identifier.issue2en_US
dc.identifier.pmid27785400en_US
dc.identifier.startpage71en_US
dc.identifier.urihttps://doi.org/10.1515/bjmg-2015-0088
dc.identifier.urihttps://hdl.handle.net/11454/50982
dc.identifier.volume18en_US
dc.identifier.wosWOS:000375181600010en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMacedonian Acad Sciences Artsen_US
dc.relation.ispartofBalkan Journal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBeta sarcoglycan (SGCB) geneen_US
dc.subjectLarge deletionen_US
dc.subjectMuscular dystrophy (MD)en_US
dc.titleSARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENEen_US
dc.typeArticleen_US

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