LGCmain
Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 2015
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size
ORIGINAL ARTICLE
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
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.43734

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed4917    
    Printed130    
    Emailed3    
    PDF Downloaded446    
    Comments [Add]    
    Cited by others 1    

Recommend this journal