Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies.
Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and brain disease, MEB-D) and hypodense white matter on the CT scans of 2 patients with (sub)normal intelligence (occidental-type cerebromuscular dystrophy, O-CMD). No morphological hallmarks were found to differentiate these subgroups. Only fat cell infiltration was found to be increased with increasing age in 'pure' CMD (pure-CMD). The morphological data did not appear to be correlated with the clinical severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Immunohistochemistry with dystrophin, vimentin and desmin antibodies in 14 patients (6 pure-CMD, 5 F-CMD, 2 MEB-D and 1 O-CMD) showed a normal expression pattern.
Leyten
Q H
QH
Institute of Neurology, University Hospital Nijmegen, The Netherlands.
ter Laak
H J
HJ
Gabreëls
F J
FJ
Renier
W O
WO
Renkawek
K
K
Sengers
R C
RC
D002648:Child; D002675:Child, Preschool; D003893:Desmin / Q000378:metabolism; D016189:Dystrophin / Q000378:metabolism*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology*; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism* / Q000473:pathology*; D014746:Vimentin / Q000378:metabolism
D003893:Desmin; D016189:Dystrophin; D014746:Vimentin