Muscle pathology and clinical features of the sarcolemmopathies

Fadic, R; Waclawik, AJ; Lewandoski, PJ; Lotz, BP


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. (C) 1997 by Elsevier Science Inc.

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Título según WOS: ID WOS:A1997WH26900017 Not found in local WOS DB
Título de la Revista: PEDIATRIC NEUROLOGY
Volumen: 16
Número: 1
Editorial: Elsevier Science Inc.
Fecha de publicación: 1997
Página de inicio: 79
Página final: 82


Notas: ISI