Yiş U.Diniz G.Hazan F.Daimagüler H.S.Baysal B.T.Baydan F.Akinci G.Ünalp A.Aktan G.Bayram E.Hiz S.Paketçi C.Okur D.Özer E.Danyeli A.E.Polat M.Uyanik G.Çirak S.2024-07-222024-07-22201811282460http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/15122The 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.EnglishAdolescentAge of OnsetBiopsyCalpainChildChild, PreschoolConnectinFemaleGenetic TestingHumansInfantLamin Type AMaleMannosyltransferasesMuscle ProteinsMuscle, SkeletalMuscular Dystrophies, Limb-GirdleSarcoglycanopathiesSarcoglycansTurkeygenomic DNAcalpainCAPN3 protein, humanconnectinlamin ALMNA protein, humanmannosyltransferasemuscle proteinMYOT protein, humanprotein O-mannosyltransferasesarcoglycanSGCB protein, humanTTN protein, humanArticlechildchildhood onset limb girdle muscular dystrophyclinical featurecontrolled studyfemaleframeshift mutationgenegene mutationgenetic analysishumanhuman tissuelimb girdle muscular dystrophymajor clinical studymalemuscle biopsymutational analysissequence analysisSGCG genetargeted gene sequencingTTN geneTurkey (republic)whole exome sequencingadolescentbiopsycomplicationgenetic screeninggeneticsinfantlimb girdle muscular dystrophyonset agepathologypreschool childsarcoglycanopathyskeletal muscleturkey (bird)Article