title: Congenital myopathies--a comprehensive update of recent advancements.
abstract: The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects.
authors.affiliation: Department of Pathology, All India Institute of Medical Sciences, New Delhi, India. sharmamehar@yahoo.co.in
authors.forename: M C
authors.initials: MC
authors.lastname: Sharma
authors.forename: D
authors.initials: D
authors.lastname: Jain
authors.forename: C
authors.initials: C
authors.lastname: Sarkar
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000503:physiopathology; D004798:Enzymes / Q000032:analysis / Q000378:metabolism; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006651:Histocytochemistry / Q000379:methods / Q000639:trends; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods / Q000639:trends; D008854:Microscopy, Electron / Q000379:methods / Q000639:trends; D054792:Muscle, Striated / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000145:classification / Q000151:congenital* / Q000175:diagnosis*; D010338:Pathology, Clinical / Q000379:methods* / Q000639:trends
chemical_list: D004798:Enzymes