Mitochondrial Myopathy and Congenital Cataract

Abstract

The autosomal recessive syndrome characterized by mitochondrial myopathy of cardiac and skeletal muscle, congenital cataract and lactic acidosis is described in two forms following a retrospective study of 16 patients at the University of Nijmegen, The Netherlands.

Keywords

• recessive syndrome
• cardiomyopathy
• subvalvular aortic