Neuropediatrics 1982; 13(4): 211-215
DOI: 10.1055/s-2008-1059625
CASE REPORTS

© Georg Thieme Verlag KG Stuttgart · New York

Familial Nemaline Myopathy

G.  Scarlato1 , G.  Pellegrini1 , M.  Moggio1 , G.  Meola1 , G.  Cordone2 , C.  Minetti2 , A.  Iester2
  • 1Dino Ferrsu Neuromuscular Disease Research Center, Department of Neurology, Medical School, University of Milan
  • 2Department of Pediatrics, Medical School, University of Genova
Further Information

Publication History

Publication Date:
14 May 2008 (online)

Abstract

Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coeflficent was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1. In one case many fibers contained one or more core like lesions.

The parents and two siblings of the patients were clinically normal; EMG examination also showed normal motor unit potentials. Muscle biopsy was normal in the father; in the mother a slight type 1 predominance was detected without rods or other signs of myopathy.

The disease seems to be transmitted by an autosomal recessive trait, although incomplete penetrance of a dominant trait cannot be excluded.