Expedited Exome Re-analysis following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder

Exome sequencing (ES) is a useful tool in diagnosing suspected mitochondrial disease but can miss pathogenic variants for several reasons. Additional testing, such as muscle biopsy or biochemical testing, can be helpful in exome-negative cases.

Source: Pediatric Neurology - April 11, 2024 Category: Neurology Authors: Elizabeth Pickup, Steven A. Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman, Kuntal Sen Tags: Short Communication Source Type: research