Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation.
Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (LGMD) patients [32 autosomal recessive (AR), 15 autosomal dominant (AD), 34 sporadic] were morphologically reevaluated. Sarcoglycan analysis was done in 37 available muscle biopsies of AR and sporadic patients. Chi-square tests were used to analyze the relation between abnormalities in AR/sporadic versus AD cases. Eighty percent of the muscle biopsies showed a predominantly dystrophic pattern, 20% showed myopathic changes, and 17% of these also had neurogenic changes. Muscle histology was not significantly different between AR/sporadic and AD LGMD; however, the observed abnormalities were more pronounced in the AR/sporadic group. Collections of inflammatory cells were observed in 25% and 10% of the AR/sporadic and AD group, respectively. Sarcoglycanopathy was diagnosed in 25% of the AR and sporadic patients of the 37 families tested. We conclude that the histological picture of AR/sporadic and AD LGMD is essentially the same, and sarcoglycanopathy constitutes an important part of the AR/sporadic patients.
van der Kooi
A J
AJ
Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands.
Ginjaar
H B
HB
Busch
H F
HF
Wokke
J H
JH
Barth
P G
PG
de Visser
M
M
D003598:Cytoskeletal Proteins / Q000172:deficiency; D016189:Dystrophin / Q000378:metabolism; D005799:Genes, Dominant / Q000502:physiology; D005808:Genes, Recessive / Q000502:physiology; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins / Q000172:deficiency; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans