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Article

Skeletal muscle gene expression profiling in mitochondrial disorders.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2005

Crimi Marco, Bordoni Andreina, Menozzi Giorgia, Riva Laura, Fortunato Francesco, Galbiati Sara, Del Bo Roberto, Pozzoli Uberto, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

Extremely variable clinic and genetic features characterize mitochondrial encephalomyopathy (MEM). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of the total mtDNA is mutated. In some MEM, the "mutant load" in an affected tissue is directly related to the severity of the...

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PMID: 15728662
DOI: 10.1096/fj.04-3045fje

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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