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Updated: Aug 10, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Muscle pathology and clinical features of the sarcolemmopathies
R Fadic1, A J Waclawik, P J Lewandoski
1Department of Neurology, University of Wisconsin Medical School, Madison 53792, USA.
Abstract:
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.
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