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

Willem de Ridder
Geert de Vries
  • Function : Author
Kristof van Schil
  • Function : Author
Tine Deconinck
  • Function : Author
Volker Straub
  • Function : Author
Jonathan Baets
  • Function : Author
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hal-04253823 , version 1 (23-10-2023)

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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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