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Article

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Neuromuscular disorders : NMD - 1 Mar 2003

Dalakas Marinos C, Dagvadorj Ayush, Goudeau Bertrand, Park Kye-Yoon, Takeda Kazuyo, Simon-Casteras Monique, Vasconcelos Olavo, Sambuughin Nyamkhishig, Shatunov Alexey, Nagle James W, Sivakumar Kumaraswamy, Vicart Patrick, Goldfarb Lev G

Abstract excerpt

Desmin myopathy is a familial or sporadic disorder characterized by the presence of desmin mutations that cause skeletal muscle weakness associated with cardiac conduction block, arrhythmia and heart failure. Distinctive histopathologic features include intracytoplasmic accumulation of desmin-rea...

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PMID: 12609507
DOI: 10.1016/s0960-8966(02)00271-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12609507-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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