Congenital myopathies.
About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions. Clinical subtypes as infantile, juvenile, and adult forms have been recognized in several CM. Not infrequently, different disease-specific morphological features may occur in muscle tissue of the same patient combined. Other CM are marked by aggregates of desmin filaments indicating the importance of recent immunohistochemical techniques. Modern myopathological techniques enabled nosological separation of CM, immunohistochemistry, actually, may usher in a new period of research in and understanding of CM. However, application of molecular genetic and molecular biological methods to CM may clarify still unsolved aspects of gene localisation for which the hereditary nature of many CM is particularly conducive, aspects of heterogeneity versus homogeneity of certain CM or clinical variants, of prenatal diagnosis of CM, of pathogenetic and nosological significance of muscle fiber proteins in CM, and of a new nosological classification of CM.
Goebel
H H
HH
Division of Neuropathology, University of Mainz, Germany.
D002648:Child; D002675:Child, Preschool; D003893:Desmin / Q000032:analysis; D006801:Humans; D007223:Infant; D009132:Muscles / Q000737:chemistry / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000145:classification / Q000151:congenital* / Q000473:pathology
D003893:Desmin