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 deficie ncy and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic m uscle fibers in all cases. These pathological findings are indistingui shable from those of Duchenne/Becker muscular dystrophy. We suggest th at the similarities in histological findings reflect a common pathogen etic mechanism, i.e., a structural weakening of the sarcolemma with an increased susceptibility to rupture under mechanical stress. We propo se the term sarcolemmopathy as an all-encompassing rubric for these di sorders. (C) 1997 by Elsevier Science Inc.