Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

Desmin-related myofibrillar myopathy is a hereditary disorder caused by pathogenic variants in the DES gene (MIM*125660), altering desmin, a muscle-specific intermediate filament which is crucial for sarcomere integrity. This condition presents with skeletal myopathy, cardiomyopathy, and conduction...

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Bibliographic Details
Main Authors: Jelle Vlaeminck, Sophie Uyttebroeck, Elke De Schutter, Ann Cordenier, Shauni Wellekens, Erwin Ströker, Kelly De Rooms, Christine Helsen, Frederik J. Hes, Philippe Giron
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
desmin-related myopathy
mosaicism
DES
c.1216C>T
R406W
Arg406Trp
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1597851/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1597851/full

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