Progressive external ophthalmoplegia due to a recurrent de novo m.15990C > T MT-TP (mt-tRNAPro) gene variant

Mitochondrial diseases are a group of inherited, metabolic disorders with heterogeneous, systemic or organ-specific symptoms, often showing poor phenotype –genotype correlation. As a direct consequence, the presence of heterogeneous clinical symptoms associated with a unique genetic variant is a classical trait of mitochondrial disorders [1]. Progressive external ophthalmoplegia (PEO) is a common mitochondrial clinical feature that presents with gra dually worsening bilateral ptosis and ophthalmoparesis.

Source: Neuromuscular Disorders - March 3, 2020 Category: Neurology Authors: Pushpa Raj Joshi, Karen Baty, Sila Hopton, Isabell Cordts, Gavin Falkous, Benedikt Schoser, Emma L. Blakely, Robert W. Taylor, Marcus Deschauer Source Type: research