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Article

Desmin splice variants causing cardiac and skeletal myopathy.

Journal of medical genetics - 1 Nov 2000

Park K Y, Dalakas M C, Goebel H H, Ferrans V J, Semino-Mora C, Litvak S, Takeda K, Goldfarb L G

Abstract excerpt

Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA splicing. Sequencing of cDNA and genomic DNA identified a heterozygous de novo A to G change at the +3 position of the...

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Identifiers

PMID: 11073539
DOI: 10.1136/jmg.37.11.851
PMCID: PMC1734475

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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