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Article

Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.

European neurology - 1 Jan 2012

Maddison Paul, Damian Maxwell S, Sewry Caroline, McGorrian Catherine, Winer John B, Odgerel Zagaa, Shatunov Alexey, Lee Hee Suk, Goldfarb Lev G

Abstract excerpt

BACKGROUND: Most of the previously described pathogenic mutations in desmin are located in highly conserved α-helical domains that play an important role in intermediate filament assembly. The role of the C-terminus non-α-helical 'tail' domain is much less investigated and until recently mutations in this domain have been implicated in only a few patients. The majority of reported desminopathy cases caused by the...

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PMID: 23051780
DOI: 10.1159/000341617
PMCID: PMC3551980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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