A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype

Willem de Ridder; Geert de Vries; Kristof van Schil; Tine Deconinck; Vincent Mouly; Volker Straub; Jonathan Baets

doi:10.1016/j.nmd.2023.04.003

Journal Articles Neuromuscular Disorders Year : 2023

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype

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Willem de Ridder

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PersonId : 1298067
ORCID : 0000-0003-2754-5302

Geert de Vries

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Kristof van Schil

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Tine Deconinck

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Vincent Mouly

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Centre de recherche en Myologie – U974 SU-INSERM

Volker Straub

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Jonathan Baets

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Life Sciences [q-bio]

Vincent Mouly : Connect in order to contact the contributor

https://hal.sorbonne-universite.fr/hal-04253823

Submitted on : Monday, October 23, 2023-10:29:11 AM

Last modification on : Monday, October 30, 2023-8:09:19 PM

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hal-04253823 , version 1 (23-10-2023)

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HAL Id : hal-04253823 , version 1
DOI : 10.1016/j.nmd.2023.04.003

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Willem de Ridder, Geert de Vries, Kristof van Schil, Tine Deconinck, Vincent Mouly, et al.. A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype. Neuromuscular Disorders, 2023, 33 (5), pp.432-439. ⟨10.1016/j.nmd.2023.04.003⟩. ⟨hal-04253823⟩

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A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype

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