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Article

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

Journal of inherited metabolic disease - 1 Feb 2011

Schara Ulrike, von Kleist-Retzow Jürgen-Christoph, Lainka Elke, Gerner Patrick, Pyle Angela, Smith Paul M, Lochmüller Hanns, Czermin Birgit, Abicht Angela, Holinski-Feder Elke, Horvath Rita

Abstract excerpt

Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mi...

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Source

Identifiers

PMID: 21153446
DOI: 10.1007/s10545-010-9250-z

Genes

TRMU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21153446-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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