Indian Journal of Pathology and Microbiology
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Year : 2008  |  Volume : 51  |  Issue : 4  |  Page : 474-480

Congenital myopathies: A clinicopathological study of 25 cases

1 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
3 Department of Neurology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Mehar C Sharma
Department of Pathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.43734

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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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