Article Dans Une Revue Neuromuscular Disorders Année : 2025

The 2025 version of the gene table of neuromuscular disorders (nuclear genome)

Résumé

This table used to be published annually in the December issue since 2010, but is now published in the January issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic neuromuscular diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified. Diseases for which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included.
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Dates et versions

hal-04926625 , version 1 (03-02-2025)

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Louise Benarroch, Gisèle Bonne, François Rivier, Vincent Procaccio, Dalil Hamroun. The 2025 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders, 2025, 46, pp.105261. ⟨10.1016/j.nmd.2024.105261⟩. ⟨hal-04926625⟩
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