Congenital myopathies: A clinicopathological study of 25 cases

• Asıl Yazarlar: Jain Deepali (Yazar), Sharma Mehar (Yazar), Sarkar Chitra (Yazar), Gulati Shefali (Yazar), Kalra Veena (Yazar), Singh Sumit (Yazar), Bhatia Rohit (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2008-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Özet

<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&#x0025; 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.

Diğer Bilgileri

0377-4929