Congenital myopathies: A clinicopathological study of 25 cases
<b>Objective:</b> Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. <b> Materials and methods: </b> The clinical data of patients who were diagnosed with congenital myopathy between 2001 and 2006...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2008-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | <b>Objective:</b> Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. <b> Materials and methods: </b> 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. <b> Results:</b> 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. <b> Conclusion:</b> 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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| Item Description: | 0377-4929 |