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

Sophie Uyttebroeck; Jelle Vlaeminck; Elke De Schutter; Ann Cordenier; Shauni Adrienne Wellekens; Erwin Ströker; Kelly De Rooms; Christine Helsen; Frederik Jan Hes; Philippe Giron

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

Sophie Uyttebroeck, Jelle Vlaeminck, Elke De Schutter, Ann Cordenier, Shauni Adrienne Wellekens, Erwin Ströker, Kelly De Rooms, Christine Helsen, Frederik Jan Hes, Philippe Giron

Onderzoeksoutput: Poster

Originele taal-2	English
Aantal pagina's	1
Status	Unpublished - 14 mrt. 2025
Evenement	25th Annual symposium of the Belgian Society for Human Genetics (BeSHG) - Louvan-la-Neuve, Belgium Duur: 13 mrt. 2025 → 14 mrt. 2025

Conference

Conference	25th Annual symposium of the Belgian Society for Human Genetics (BeSHG)
Land/Regio	Belgium
Stad	Louvan-la-Neuve
Periode	13/03/25 → 14/03/25

Citeer dit

Uyttebroeck, S., Vlaeminck, J., De Schutter, E., Cordenier, A., Wellekens, S. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J., & Giron, P. (2025). A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier. Postersessie gepresenteerd op 25th Annual symposium of the Belgian Society for Human Genetics (BeSHG), Louvan-la-Neuve, Belgium.

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title = "A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier",

author = "Sophie Uyttebroeck and Jelle Vlaeminck and {De Schutter}, Elke and Ann Cordenier and Wellekens, {Shauni Adrienne} and Erwin Str{\"o}ker and {De Rooms}, Kelly and Christine Helsen and Hes, {Frederik Jan} and Philippe Giron",

year = "2025",

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note = "25th Annual symposium of the Belgian Society for Human Genetics (BeSHG) ; Conference date: 13-03-2025 Through 14-03-2025",

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Uyttebroeck, S , Vlaeminck, J , De Schutter, E , Cordenier, A , Wellekens, SA , Ströker, E, De Rooms, K, Helsen, C , Hes, FJ & Giron, P 2025, 'A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier', 25th Annual symposium of the Belgian Society for Human Genetics (BeSHG), Louvan-la-Neuve, Belgium, 13/03/25 - 14/03/25.

TY - CONF

T1 - A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

AU - Uyttebroeck, Sophie

AU - Vlaeminck, Jelle

AU - De Schutter, Elke

AU - Cordenier, Ann

AU - Wellekens, Shauni Adrienne

AU - Ströker, Erwin

AU - De Rooms, Kelly

AU - Helsen, Christine

AU - Hes, Frederik Jan

AU - Giron, Philippe

PY - 2025/3/14

Y1 - 2025/3/14

M3 - Poster

T2 - 25th Annual symposium of the Belgian Society for Human Genetics (BeSHG)

Y2 - 13 March 2025 through 14 March 2025

ER -