Muscle pathology and clinical features of the sarcolemmopathies.
We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathological findings are indistinguishable from those of Duchenne/Becker muscular dystrophy. We suggest that the similarities in histological findings reflect a common pathogenetic mechanism, i.e., a structural weakening of the sarcolemma with an increased susceptibility to rupture under mechanical stress. We propose the term sarcolemmopathy as an all-encompassing rubric for these disorders.
Fadic
R
R
Department of Neurology, University of Wisconsin Medical School, Madison 53792, USA.
Waclawik
A J
AJ
Lewandoski
P J
PJ
Lotz
B P
BP
D000293:Adolescent; D002648:Child; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency* / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D049031:Sarcoglycans; D012508:Sarcolemma / Q000473:pathology*
D003598:Cytoskeletal Proteins; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans