Article
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
Neurogenetics - 1 Oct 2024
Kotioumbé Mahamadou, Maiga Alassane B, Bamba Salia, Cissé Lassana, Diarra Salimata, Diallo Salimata, Yalcouyé Abdoulaye, Kané Fousseyni, Diallo Seybou H, Coulibaly Dramane, Coulibaly Thomas, Dembélé Kékouta, Maiga Boubacar, Guinto Cheick O, Landouré Guida
Abstract excerpt
GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs....
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