In:
Arquivos de Neuro-Psiquiatria, FapUNIFESP (SciELO), Vol. 41, No. 2 ( 1983-06), p. 199-207
Abstract:
Report of a case of a male child, with hypotonia since birth, along with severe feeding dificulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.
Type of Medium:
Online Resource
ISSN:
0004-282X
DOI:
10.1590/S0004-282X1983000200010
Language:
Unknown
Publisher:
FapUNIFESP (SciELO)
Publication Date:
1983
detail.hit.zdb_id:
2053072-9
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