Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Abstract Background The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Building off of jointly developed...

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Bibliographic Details
Main Authors: Laura E. MacMullen, Elizabeth Reynolds, Marissa Weis, Ibrahim George-Sankoh, Sara Nguyen, Katelynn D. Stanley, Mariya Redko, Maria Poblete, Amy C. Goldstein, Rebecca D. Ganetzky
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Kearns Sayre syndrome
Pearson syndrome
Chronic progressive external ophthalmoplegia
Single large‐scale mitochondrial deletion syndromes
mtDNA
Rare disease
Online Access:https://doi.org/10.1186/s13023-025-03632-4
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https://doi.org/10.1186/s13023-025-03632-4

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