B. Laubscher et al., RAGGED-RED FIBERS AND COMPLEX-I DEFICIENCY IN A NEONATE WITH ARTHROGRYPOSIS CONGENITA, Pediatric neurology, 17(3), 1997, pp. 249-251
We describe a neonate with hypotonia, weakness, early death owing to r
espiratory failure, and a severe form of arthrogryposis multiplex cong
enita, Postmortem studies revealed numerous ragged-red fibers and cent
ral nervous system abnormalities consistent with a mitochondrial disea
se. No NADH:ubiquinone-1 oxidoreductase (complex I) activity could be
detected in skeletal muscle, These findings suggest that mitochondrial
cytopathies can be associated with arthrogryposis multiplex congenita
and should therefore be sought in neonates presenting with severe art
hrogryposis. (C) 1997 by Elsevier Science Inc. All rights reserved.