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Article

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies

21 Jan 2025

Abstract excerpt

BACKGROUND AND OBJECTIVES: Mitochondrial diseases are caused by defects in oxidative phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where muscle involvement is predominant. PMM presents symptoms ranging from exercise intolerance to progressive muscle weakness, often involving ocular muscles, leading to ptosis and progressive external ophthalmoplegia (PEO). PMM can be due to variants...

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PMID: 39854975
DOI: 10.1016/j.ymgme.2025.109023

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