Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

doi:10.3174/ajnr.A8670

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Article

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

AJNR. American journal of neuroradiology - 3 Jun 2025

Alves Cesar A P F, Rossi-Espagnet Maria Camilla, Perez Francisco, Manteghinejad Amirreza, Peterson James T, Ganetzky Rebecca, Napolitano Antonio, Grassi Francesco, George-Sankoh Ibrahim, Yildiz Harun, Muraresku Colleen, Falk Marni J, Martinelli Diego, Longo Daniela, Vanderver Adeline, Gandolfo Carlo, Saneto Russell P, Goldstein Amy, Vossough Arastoo

Abstract excerpt

BACKGROUND AND PURPOSE: Single large-scale mitochondrial deletion syndrome (SLSMD) comprises devastating mitochondrial diseases often classified into 3 major clinical syndromes: Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), and Pearson syndrome (PS). Nevertheless, there remains large clinical variability and overlap among these SLSMD groups. Therefore, further stratification is...

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PMID: 40210455
DOI: 10.3174/ajnr.A8670
PMCID: PMC12152798

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