title: Congenital myopathies: a clinicopathological study of 25 cases.
abstract: OBJECTIVE
  Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Deepali
authors.initials: D
authors.lastname: Jain
authors.forename: Mehar C
authors.initials: MC
authors.lastname: Sharma
authors.forename: Chitra
authors.initials: C
authors.lastname: Sarkar
authors.forename: Shefali
authors.initials: S
authors.lastname: Gulati
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
authors.forename: Sumit
authors.initials: S
authors.lastname: Singh
authors.forename: Rohit
authors.initials: R
authors.lastname: Bhatia
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000378:metabolism; D004801:Eosine Yellowish-(YS); D005260:Female; D053878:Hemolytic Agents; D006651:Histocytochemistry; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000145:classification / Q000151:congenital / Q000473:pathology / Q000503:physiopathology; D017696:Myopathies, Nemaline / Q000473:pathology; D055815:Young Adult
chemical_list: D004798:Enzymes; D053878:Hemolytic Agents; D004801:Eosine Yellowish-(YS)