In this study, it was aimed to describe the clinical, histopathological and genetic features of 35 patients with sarcoglycanopathies confirmed by muscle biopsies and genetic analysis. We retrospectively reviewed 35 patients who underwent muscle biopsy examination between 2007 and 2013 at pathology laboratory of Izmir Neuromuscular Diseases’ Centre. All patients clinically diagnosed as muscular dystrophy and biopsies were collected from 5 different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood of patients and genetic tests (mutation analyses and deletion-duplication analyses for all 4 sarcoglycan genes) were performed at Ankara Duzen Laboratory. The mean age of patients was 7.61 years (0–21 years). Only one case (2.85%) was older than 14 years. The mean CPK level was 10,545 U/L (between 700 and 35,000). There were 6 siblings in these series. Expression defects of alpha, beta or gamma sarcoglycans were determined in (male: 23/34.2% and female: 12/66.8%) all patients with muscle biopsy. Gamma sarcoglycanopathies were the most (n = 25) and alpha sarcoglycanopathies were the second common (n = 7) muscular dystrophy in this series. Although focal delta sarcoglycan staining defects were determined in some patients by muscle biopsy, any genetic defects were found in them. The present study demonstrated that, both muscle biopsy and DNA analysis remain important methods for diagnosis of muscular dystrophies. Because differential diagnosis of sarcoglycanopathies and distrophinopathies, is impossible to achieve on clinical grounds alone; therefore immunohistochemical straining on muscle biopsy and molecular genetic analysis are mandatory for correct diagnosis. In this study, it was aimed to describe the clinical, histopathological and genetic features of 35 patients with sarcoglycanopathies confirmed by muscle biopsies and genetic analysis. We retrospectively reviewed 35 patients who underwent muscle biopsy examination between 2007 and 2013 at pathology laboratory of Izmir Neuromuscular Diseases’ Centre. All patients clinically diagnosed as muscular dystrophy and biopsies were collected from 5 different centers of neurological disorders. All DNAs were extracted from muscle tissues or blood of patients and genetic tests (mutation analyses and deletion-duplication analyses for all 4 sarcoglycan genes) were performed at Ankara Duzen Laboratory. The mean age of patients was 7.61 years (0–21 years). Only one case (2.85%) was older than 14 years. The mean CPK level was 10,545 U/L (between 700 and 35,000). There were 6 siblings in these series. Expression defects of alpha, beta or gamma sarcoglycans were determined in (male: 23/34.2% and female: 12/66.8%) all patients with muscle biopsy. Gamma sarcoglycanopathies were the most (n = 25) and alpha sarcoglycanopathies were the second common (n = 7) muscular dystrophy in this series. Although focal delta sarcoglycan staining defects were determined in some patients by muscle biopsy, any genetic defects were found in them. The present study demonstrated that, both muscle biopsy and DNA analysis remain important methods for diagnosis of muscular dystrophies. Because differential diagnosis of sarcoglycanopathies and distrophinopathies, is impossible to achieve on clinical grounds alone; therefore immunohistochemical straining on muscle biopsy and molecular genetic analysis are mandatory for correct diagnosis.
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