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Article

Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.

International journal of molecular sciences - 5 Oct 2024

Cicchinelli Michela, Primiano Guido, Servidei Serenella, Ardito Michelangelo, Percio Anna, Urbani Andrea, Iavarone Federica

Abstract excerpt

The introduction of new sequencing approaches into clinical practice has radically changed the diagnostic approach to mitochondrial diseases, significantly improving the molecular definition rate in this group of neurogenetic disorders. At the same time, there have been no equal successes in the area of in-depth understanding of disease mechanisms and few innovative therapeutic approaches have been proposed...

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Identifiers

PMID: 39409059
DOI: 10.3390/ijms251910731
PMCID: PMC11477128

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