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Article

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.

Proceedings of the National Academy of Sciences of the United States of America - 16 Jan 2007

Angelin Alessia, Tiepolo Tania, Sabatelli Patrizia, Grumati Paolo, Bergamin Natascha, Golfieri Cristina, Mattioli Elisabetta, Gualandi Francesca, Ferlini Alessandra, Merlini Luciano, Maraldi Nadir M, Bonaldo Paolo, Bernardi Paolo

Abstract excerpt

Ullrich congenital muscular dystrophy is a severe genetically and clinically heterogeneous muscle disorder linked to collagen VI deficiency. The pathogenesis of the disease is unknown. To assess the potential role of mitochondrial dysfunction in the onset of muscle fiber death in this form of dys...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17215366
DOI: 10.1073/pnas.0610270104
PMCID: PMC1783427

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17215366-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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