OXPHOS complex deficiency in congenital myopathy: A systematic review

Congenital myopathies are inherited neuromuscular disorders characterized by early‐onset muscle weakness and distinct histopathological features. Although mitochondrial involvement in congenital myopathy is well recognized in its pathophysiology, oxidative phosphorylation (OXPHOS) complex dysfunction, which is associated with primary mitochondrial diseases (MD), is not. This systematic review aimed to evaluate the prevalence and characteristics of reported OXPHOS complex dysfunction in genetically confirmed congenital myopathy cases.

• Publication year

  2025

• Venue

  European Journal of Clinical Investigation

• Publication date

  2025-09-11

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/eci.70114PMID 40936319PMCID 12517249
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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