Myotubular myopathy linked to chromosome X. Pathological and clinical case study
García-Bragado, F.; Hernández, M.; de Miguel, C.; López Unzu, A.; Martínez, B.
Archivos de Neurobiologia 53(3): 134-137
1990
ISSN/ISBN: 0004-0576 PMID: 2241471 Document Number: 349459
We present a case of X-linked myotubular myopathy in a boy who died neonatally because of respiratory insufficiency. Five biopsy revealed predominance and hypotrophy of type 1 fibres with central nuclei in the majority of them, without perinuclear ATPasa activity. Electron microscopic study corroborated these features and showed the absence of perinuclear myofibres. In the postmortem examination there was no involvement of others organs including the central nervous system.