title: Congenital myopathies: clinical and immunohistochemical study.
abstract: Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process.
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Fazil
authors.initials: F
authors.lastname: Thaha
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: A
authors.initials: A
authors.lastname: Nalini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003893:Desmin / Q000378:metabolism; D004576:Electromyography; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods*; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission; D018485:Muscle Fibers, Skeletal; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000145:classification / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology*; D009136:Muscular Dystrophies; D017696:Myopathies, Nemaline; D020914:Myopathies, Structural, Congenital; D020512:Myopathy, Central Core; D009243:NAD / Q000378:metabolism; D012189:Retrospective Studies; D014746:Vimentin / Q000378:metabolism; D055815:Young Adult
chemical_list: D003893:Desmin; D014746:Vimentin; D009243:NAD; D003402:Creatine Kinase