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

ABSTRACT: 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 abnormalities. Genetic counselling for index patients and their family members is complicated by variable expressivity, incomplete penetrance, and de novo occurrence. Mosaicism in asymptomatic parents can obscure inheritance patterns, particularly when low-grade mosaic variants in blood may be missed. In case of DES, mosaic carriership has not been described before. We describe a case of a 24-year-old female diagnosed with desmin-related myopathy due to a heterozygous pathog

SUBMITTER: Vlaeminck J 

PROVIDER: S-EPMC12213651 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature