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[Rod myopathy. A fatal neonatal case].

作者信息

Netter J C, Laurent-Pellegrin M, Bildstein G, Chateauneuf R, Petrus M

出版信息

Arch Fr Pediatr. 1986 May;43(5):327-9.

PMID:3778091
Abstract

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.

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