Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey

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dc.contributor.authorYiş U.
dc.contributor.authorDiniz G.
dc.contributor.authorHazan F.
dc.contributor.authorDaimagüler H.S.
dc.contributor.authorBaysal B.T.
dc.contributor.authorBaydan F.
dc.contributor.authorAkinci G.
dc.contributor.authorÜnalp A.
dc.contributor.authorAktan G.
dc.contributor.authorBayram E.
dc.contributor.authorHiz S.
dc.contributor.authorPaketçi C.
dc.contributor.authorOkur D.
dc.contributor.authorÖzer E.
dc.contributor.authorDanyeli A.E.
dc.contributor.authorPolat M.
dc.contributor.authorUyanik G.
dc.contributor.authorÇirak S.
dc.date.accessioned2024-07-22T08:10:11Z
dc.date.available2024-07-22T08:10:11Z
dc.date.issued2018
dc.description.abstractThe aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved.
dc.identifier.issn11282460
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/15122
dc.language.isoEnglish
dc.publisherPacini Editore S.p.A.
dc.subjectAdolescent
dc.subjectAge of Onset
dc.subjectBiopsy
dc.subjectCalpain
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectConnectin
dc.subjectFemale
dc.subjectGenetic Testing
dc.subjectHumans
dc.subjectInfant
dc.subjectLamin Type A
dc.subjectMale
dc.subjectMannosyltransferases
dc.subjectMuscle Proteins
dc.subjectMuscle, Skeletal
dc.subjectMuscular Dystrophies, Limb-Girdle
dc.subjectSarcoglycanopathies
dc.subjectSarcoglycans
dc.subjectTurkey
dc.subjectgenomic DNA
dc.subjectcalpain
dc.subjectCAPN3 protein, human
dc.subjectconnectin
dc.subjectlamin A
dc.subjectLMNA protein, human
dc.subjectmannosyltransferase
dc.subjectmuscle protein
dc.subjectMYOT protein, human
dc.subjectprotein O-mannosyltransferase
dc.subjectsarcoglycan
dc.subjectSGCB protein, human
dc.subjectTTN protein, human
dc.subjectArticle
dc.subjectchild
dc.subjectchildhood onset limb girdle muscular dystrophy
dc.subjectclinical feature
dc.subjectcontrolled study
dc.subjectfemale
dc.subjectframeshift mutation
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic analysis
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectlimb girdle muscular dystrophy
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmuscle biopsy
dc.subjectmutational analysis
dc.subjectsequence analysis
dc.subjectSGCG gene
dc.subjecttargeted gene sequencing
dc.subjectTTN gene
dc.subjectTurkey (republic)
dc.subjectwhole exome sequencing
dc.subjectadolescent
dc.subjectbiopsy
dc.subjectcomplication
dc.subjectgenetic screening
dc.subjectgenetics
dc.subjectinfant
dc.subjectlimb girdle muscular dystrophy
dc.subjectonset age
dc.subjectpathology
dc.subjectpreschool child
dc.subjectsarcoglycanopathy
dc.subjectskeletal muscle
dc.subjectturkey (bird)
dc.titleChildhood onset limb-girdle muscular dystrophies in the aegean part of Turkey
dc.typeArticle

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