OXPHOS complex deficiency in congenital myopathy: A systematic review.

ABSTRACT:

Background

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.

Methods

A systematic literature search was conducted in PubMed, Scopus and Web of Science. The search strategy was developed according to PRISMA guidelines. Two independent reviewers screened the studies for inclusion. Eligible studie

SUBMITTER: du Preez MJ 

PROVIDER: S-EPMC12517249 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature