title: A regional panorama of dysferlinopathies.
abstract: OBJECTIVE
  We describe the characteristic features of 11 patients (6 men and 5 women) with dysferlinopathies confirmed by muscle biopsies. In addition, we aimed to provide a realistic comprehensive picture of the severe muscle diseases in the Aegean Region of Turkey.
  
  
  METHODS
  We retrospectively reviewed 90 patients who underwent muscle biopsy examinations between 2008 and 2011 in the pathology laboratory of Izmir Dr.Behcet Uz Children's Hospital. Biopsy specimens of all patients clinically diagnosed as muscular dystrophy referred from 4 different centers of neurological disorders were collected.
  
  
  RESULTS
  Dystrophinopathy was the most (n=45) and gammasarcoglycanopathy was the second common (n=13) muscular dystrophy in this series. The mean age of all 90 patients was 8.8 years (3 months- 64 years). Only 14 cases (15.5%) were older than 14, and 23 cases were younger than two years. Dysferlinopathy was the most common dystrophy in the older age group. There were statistical significant differences between the types of dystrophy and inflammation (0.021), creatine kinase levels (p= 0.001), age (p=0.001), and gender (p < 0.001) of the patients.
  
  
  CONCLUSIONS
  The present study revealed that dysferlinopathies is not an uncommon form of muscular dystrophies in western Turkey. We have concluded that if avoidance from unnecessary therapeutic interventions is desired, we must be aware of the relative frequencies of dysferlinopathies.
authors.affiliation: Department of Pathology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey. agdiniz@gmail.com
authors.forename: Gülden
authors.initials: G
authors.lastname: Dınız
authors.forename: Gaye
authors.initials: G
authors.lastname: Eryaşar
authors.forename: Sabiha
authors.initials: S
authors.lastname: Türe
authors.forename: Ayfer
authors.initials: A
authors.lastname: Akçay
authors.forename: Ragıp
authors.initials: R
authors.lastname: Ortaç
authors.forename: Hasan
authors.initials: H
authors.lastname: Tekgül
authors.forename: Galip
authors.initials: G
authors.lastname: Akhan
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology* / Q000378:metabolism / Q000473:pathology*; D015995:Prevalence; D012189:Retrospective Studies; D012737:Sex Factors; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult