Article

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

2025-10-14

Abstract excerpt

<h4>Background</h4> Diagnostic delay is common in mitochondrial disease, and its drivers remain unclear despite advances in molecular diagnostics. <h4>Methods</h4> We retospectively analyzed 58 individuals with molecularly confirmed mitochondrial disease at the Mount Sinai Mitochondrial Disease Clinic, diagnosed after 2016. Diagnostic delay was partitioned into intervals from symptom onset to clinical suspicion,...

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Literature Corpus work: 49dd22ec-f484-5ac8-9b85-150e12614e1c
DOI: 10.1101/2025.10.09.25337582

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