Key result
Clinicopathological analysis over 6 years revealed that 1.12% of muscle biopsies were congenital myopathies, with central core disease being the most common.
Observational (n=25)
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Enzyme histochemistry and electron microscopic examination are crucial for diagnosing congenital myopathies, especially when genetic studies are unavailable.
OBJECTIVE: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. MATERIALS AND METHODS: The clinical data of patients who were diagnosed with congenital myopathy between 2001 and 2006 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunohistochemistry. Biopsies were also processed for ultrastructural analysis. RESULTS: During a period of 6 years, 1.12% of the muscle biopsies were diagnosed as congenital myopathies. The most common congenital myopathy was central core disease followed by nemaline rod myopathy and multi-mini core disease. Clinically, they have variable features. The final diagnosis was made with the help of enzyme histochemistry and ultrastructural features. CONCLUSION: This study emphasizes the importance of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies especially in the absence of genetic studies.
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Sharma et al. (2008) conducted an observational in Congenital myopathies (n=25). Muscle biopsy with enzyme histochemistry and ultrastructural analysis was evaluated on Proportion of muscle biopsies diagnosed as congenital myopathies. Clinicopathological analysis over 6 years revealed that 1.12% of muscle biopsies were congenital myopathies, with central core disease being the most common.
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