ArticleJournal of neuromuscular diseases2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.
Article in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classic phenotypes of plectinopathies include epidermolysis bullosa simplex and muscular dystrophy with proximal distribution, associated or not with skin blistering. However, in recent years, patients manifesting new muscular phenotypes including lower-limb distal weakness have been described. We aim to expand the phenotypic spectrum of plectinopathies by reporting a case presenting with a pure skeletal myopathy with predominant upper-limb distal weakness. We describe this distal myopathy phenotype providing comprehensive clinical, genetic, myopathological and radiological data. Genetic studies identified two truncating variants in
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