Phenotypic variability within the desminopathies: A case series of three patients
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Katz, Matthew
Henderson, Robert
Prasad, Sandhir
Denman, Russell
Blum, Stefan
Davis, Mark
Robertson, Thomas
McCombe, Pamela
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Abstract
The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle. Pathogenic DES variants produce a range of skeletal and cardiac muscle disorders collectively known as the desminopathies. We report three desminopathy cases which highlight the phenotypic heterogeneity of this disorder and discuss various factors that may contribute to the clinical differences seen between patients with different desmin variants and also between family members with the same variant.
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Frontiers in Neurology
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13
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© 2023 Yeow, Katz, Henderson, Prasad, Denman, Blum, Davis, Robertson and McCombe. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
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Clinical sciences
Neurosciences
Biological psychology
Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Neurosciences
Neurosciences & Neurology
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Yeow, D; Katz, M; Henderson, R; Prasad, S; Denman, R; Blum, S; Davis, M; Robertson, T; McCombe, P, Phenotypic variability within the desminopathies: A case series of three patients, Frontiers in Neurology, 2023, 13, pp. 1110934