Neuromuscular disorders : NMDHumansMaleMutationMissenseFemale
Novel missense variants associated with GNE myopathy.
Johanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, Giuliana Capece, Elena Pegoraro, Maria Francesca Di Feo, Violeta Mihaylova, Hans H Jung, Fabien Hauw, Tanya Stojkovic, Anthony Behin, Norma Romero, Thierry Maisonobe, Matteo Lucchini, Miguel Oliveira Santos
Published: 202510.1016/j.nmd.2025.106258
Abstract
GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups. It is an autosomal recessive disease, caused…
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