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Article

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

European journal of medical genetics - 1 Jan 2000

Bergman Jorieke E H, Veenstra-Knol Hermine E, van Essen Anthonie J, van Ravenswaaij Conny M A, den Dunnen Wilfred F A, van den Wijngaard Arthur, van Tintelen J Peter

Abstract excerpt

Desmin-related myopathy is characterised by skeletal muscle weakness often combined with cardiac involvement. Mutations in the desmin gene have been described as a cause of desmin-related myopathy (OMIM 601419). We report here on two distantly related Dutch families with autosomal dominant inheritance of desmin-related myopathy affecting 15 family members. A highly heterogeneous clinical picture is apparent,...

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Identifiers

PMID: 17720647
DOI: 10.1016/j.ejmg.2007.06.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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