Article
Motor axonal neuropathy associated with GNE mutations.
Muscle & nerve - 1 Mar 2021
Grecu Nicolae, Villa Luisa, Cavalli Michele, Ristaino Antoine, Choumert Ariane, Butori Catherine, Salviati Leonardo, Puma Angela, Krahn Martin, Cerino Mathieu, Sacconi Sabrina
Abstract excerpt
BACKGROUND: Mutations in the GNE gene have been so far described as predominantly associated with distal lower-limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease. METHODS: We describe three patients displaying motor neuropathy in association with GNE mutations. Clinical, electrophysiological, imaging, pathological, and genetic data are...
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