Rod myopathy. a fatal neonatal case
Netter, J.C.; Laurent-Pellegrin, M.; Bildstein, G.; Chateauneuf, R.; Petrus, M.
Archives Francaises de Pediatrie 43(5): 327-329
1986
ISSN/ISBN: 0003-9764 PMID: 3778091 Document Number: 280131
A new lethal case of nemaline myopathy is reported. Muscle biopsy at 20 days of age permitted the diagnosis but this boy died at the 35th day of life. In a review of the literature (15 similar cases) the authors analyse the diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder, apparently less "benign" than previously thought.