LONP1 encodes the mitochondrial Lon protease, an ATP-dependent protease important for regulation of mitochondrial metabolism and response to free radical damage, and the maintenance and repair of mitochondrial DNA. Bi-allelic mutations in LONP1 have been associated with cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome. Patients described previously with CODAS syndrome consistently present with bilateral cataracts and prominent skeletal abnormalities. We describe two brothers, aged 12 and 11 years, who presented with significant neonatal hypotonia and muscle weakness, with subsequently delayed motor milestones.

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