title: Postnatal centralization of muscle fibre nuclei in centronuclear myopathy.
abstract: Postnatal centralization of muscle fibre nuclei, which were previously located subsarcolemmally, is described in a case of centronuclear myopathy (CNM) in a male patient with generalized muscle weakness since birth. A muscle biopsy was taken at the age of 11 months; no particular abnormalities were observed at this stage apart from an unusual variation in fibre size. A distinctly below average muscle fibre diameter, increased endomysial connective tissue, and features typical for CNM were found in a biopsy taken 9 yr later. Immunohistochemical studies using antibodies to desmin, vimentin, laminin and type IV collagen revealed altered staining patterns compared with normal fibres. The abnormalities in the patterns of cytoskeletal proteins point to a defective regulation of the composition and organization of the cytoskeletal network during development, paralleled by abnormalities in the extracellular matrix.
authors.affiliation: Department of Cell Biology and Histology, University of Nijmegen, The Netherlands.
authors.forename: P F
authors.initials: PF
authors.lastname: van der Ven
authors.forename: P H
authors.initials: PH
authors.lastname: Jap
authors.forename: R H
authors.initials: RH
authors.lastname: Wetzels
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: F C
authors.initials: FC
authors.lastname: Ramaekers
authors.forename: A M
authors.initials: AM
authors.lastname: Stadhouders
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
mesh_terms: D002467:Cell Nucleus / Q000648:ultrastructure*; D002648:Child; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology*