RAGGED-RED FIBERS AND COMPLEX-I DEFICIENCY IN A NEONATE WITH ARTHROGRYPOSIS CONGENITA

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.