Document Detail

A Regional Panorama of Dysferlinopathies.
MedLine Citation:
PMID:  23011829     Owner:  NLM     Status:  Publisher    
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. Material and Method: 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. Conclusion: 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.
Gülden Dınız; Gaye Eryaşar; Sabiha Türe; Ayfer Akçay; Ragıp Ortaç; Hasan Tekgül; Galip Akhan
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Publication Detail:
Journal Detail:
Title:  Turk patoloji dergisi     Volume:  28     ISSN:  1018-5615     ISO Abbreviation:  Turk Patoloji Derg     Publication Date:  2012  
Date Detail:
Created Date:  2012-9-26     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9440471     Medline TA:  Turk Patoloji Derg     Country:  -    
Other Details:
Languages:  ENG     Pagination:  259-265     Citation Subset:  -    
Department of Pathology, Dr. Behçet Uz Children's Hospital, İZMİR, TURKEY.
Vernacular Title:
Disferlinopatilerin Bölgesel Panoraması
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