Postnatal centralization of muscle fibre nuclei in centronuclear myopathy.
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.
van der Ven
P F
PF
Department of Cell Biology and Histology, University of Nijmegen, The Netherlands.
Jap
P H
PH
Wetzels
R H
RH
ter Laak
H J
HJ
Ramaekers
F C
FC
Stadhouders
A M
AM
Sengers
R C
RC
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*