Phenotypic variability within the desminopathies: A case series of three patients

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...

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Detalles Bibliográficos
Autores principales: Yeow, Dennis, Katz, Matthew, Henderson, Robert, Prasad, Sandhir, Denman, Russell, Blum, Stefan, Davis, Mark, Robertson, Thomas, McCombe, Pamela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884684/
https://www.ncbi.nlm.nih.gov/pubmed/36726751
http://dx.doi.org/10.3389/fneur.2022.1110934
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author Yeow, Dennis
Katz, Matthew
Henderson, Robert
Prasad, Sandhir
Denman, Russell
Blum, Stefan
Davis, Mark
Robertson, Thomas
McCombe, Pamela
author_facet Yeow, Dennis
Katz, Matthew
Henderson, Robert
Prasad, Sandhir
Denman, Russell
Blum, Stefan
Davis, Mark
Robertson, Thomas
McCombe, Pamela
author_sort Yeow, Dennis
collection PubMed
description 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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spelling pubmed-98846842023-01-31 Phenotypic variability within the desminopathies: A case series of three patients Yeow, Dennis Katz, Matthew Henderson, Robert Prasad, Sandhir Denman, Russell Blum, Stefan Davis, Mark Robertson, Thomas McCombe, Pamela Front Neurol Neurology 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. Frontiers Media S.A. 2023-01-16 /pmc/articles/PMC9884684/ /pubmed/36726751 http://dx.doi.org/10.3389/fneur.2022.1110934 Text en Copyright © 2023 Yeow, Katz, Henderson, Prasad, Denman, Blum, Davis, Robertson and McCombe. https://creativecommons.org/licenses/by/4.0/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.
spellingShingle Neurology
Yeow, Dennis
Katz, Matthew
Henderson, Robert
Prasad, Sandhir
Denman, Russell
Blum, Stefan
Davis, Mark
Robertson, Thomas
McCombe, Pamela
Phenotypic variability within the desminopathies: A case series of three patients
title Phenotypic variability within the desminopathies: A case series of three patients
title_full Phenotypic variability within the desminopathies: A case series of three patients
title_fullStr Phenotypic variability within the desminopathies: A case series of three patients
title_full_unstemmed Phenotypic variability within the desminopathies: A case series of three patients
title_short Phenotypic variability within the desminopathies: A case series of three patients
title_sort phenotypic variability within the desminopathies: a case series of three patients
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884684/
https://www.ncbi.nlm.nih.gov/pubmed/36726751
http://dx.doi.org/10.3389/fneur.2022.1110934
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