title: Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Tepecik Education and Research Hospital, Neuromuscular Disease Center, İZMİR, TURKEY.
authors.forename: Gülden
authors.initials: G
authors.lastname: Dınız
authors.forename: Filiz
authors.initials: F
authors.lastname: Hazan
authors.forename: Hülya Tosun
authors.initials: HT
authors.lastname: Yildirim
authors.forename: Aycan
authors.initials: A
authors.lastname: Unalp
authors.forename: Muzaffer
authors.initials: M
authors.lastname: Polat
authors.forename: Gül
authors.initials: G
authors.lastname: Serdaroğlu
authors.forename: Orkide
authors.initials: O
authors.lastname: Güzel
authors.forename: Ozlem
authors.initials: O
authors.lastname: Bağ
authors.forename: Yaprak
authors.initials: Y
authors.lastname: Seçıl
authors.forename: Figen
authors.initials: F
authors.lastname: Ozgönül
authors.forename: Sabiha
authors.initials: S
authors.lastname: Türe
authors.forename: Galip
authors.initials: G
authors.lastname: Akhan
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tükün
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D058088:Sarcoglycanopathies / Q000235:genetics* / Q000473:pathology*; D049031:Sarcoglycans / Q000235:genetics*; D055815:Young Adult
chemical_list: D049031:Sarcoglycans; D004247:DNA