Article
MIC13-linked cristae disruption causes metabolic failure and early fibrotic remodelling in mitochondrial liver disease
2026-01-18
Abstract excerpt
Mitochondrial diseases are highly complex and heterogeneous, and nearly 20% of cases involve severe liver pathology. Here, we report an affected individual carrying a pathogenic MIC13 variant (c.260-2A>G) associated with early-onset mitochondrial hepato-encephalopathy. Such mitochondrial hepatopathies are rare, multisystemic disorders with major liver involvement, difficult to diagnose, lack effective treatment,...
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Identifiers and source
- Literature Corpus work
- 3720e35c-232a-5a7b-952b-0da078459e25
- DOI
- 10.64898/2026.01.16.699229