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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Autors principals:	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:	Artigo
Idioma:	Inglês
Publicat:	BMC 2025-08-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Kearns Sayre syndrome Pearson syndrome Chronic progressive external ophthalmoplegia Single large‐scale mitochondrial deletion syndromes mtDNA Rare disease
Accés en línia:	https://doi.org/10.1186/s13023-025-03632-4
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