[Rod myopathy. A fatal neonatal case].
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.
D001706:Biopsy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000151:congenital / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D009210:Myofibrils / Q000648:ultrastructure*
Myopathie à bâtonnets. Une observation néonatale létale.