A new congenital myopathy
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Acta Neuropathologica
- Vol. 37 (3) , 225-230
- https://doi.org/10.1007/bf00686883
Abstract
A case of non-progressive congenital myopathy is described in which there was absence of muscles and scapulo-peroneal distribution of weakness. The muscle biopsy showed preferential atrophy of Type I fibers and subsarcolemal bodies. These bodies were composed of an acidic protein with sulphahydryl groups which showed acid stable adenosine triphosphatase activity. The possibility of a maturational arrest as a cause is presented.Keywords
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