SCImago Journal & Country Rank
This journal is a member of, and subscribes to the principles of, the Committee on Publication Ethics (COPE)
2014, Volume 30, Number 2, Page(s) 111-117     
[ Abstract (Turkish) ] [ PDF ] [ Similar Articles ]
DOI: 10.5146/tjpath.2014.01239
Histopathological and Genetic Features of Patients with Limb Girdle Muscular Dystrophy Type 2C
Gülden DİNİZ1, Filiz HAZAN2, Hülya TOSUN YILDIRIM3, Aycan ÜNALP4, Muzaffer POLAT5, Gül SERDAROĞLU6, Orkide GÜZEL4, Özlem BAĞ4, Yaprak SEÇİL7, Figen ÖZGÖNÜL1, Sabiha TÜRE7, Galip AKHAN7, Ajlan TÜKÜN8
1Tepecik Education and Research Hospital, Neuromuscular Disease Center, İZMİR, TURKEY
2Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, İZMİR, TURKEY
3Department of Pathology, Dr. Behçet Uz Children's Hospital, İZMİR, TURKEY
4Department of Pediatric Neurology, Dr. Behçet Uz Children's Hospital, İZMİR, TURKEY
5Department of Pediatric Neurology,Celal Bayar University, Faculty of Medicine, Manİsa, Turkey
6Ege University, Faculty of Medicine, İZMİR, TURKEY
7Department of Neurology, Katip Çelebi University, Faculty of Medicine, İZMİR, TURKEY
8Department of Medical Genetics, Düzen Laboratory, ANKARA, TURKEY
Keywords: Dystrophin, Gamma sarcoglycan, Genetic testing, Muscular dystrophy, Limb-Girdle

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.

Material and Method: 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.

Conclusion: 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.

[ Abstarct (Turkish) ] [ PDF ] [ Similar Articles ]