Article

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy

2024-03-07

Abstract excerpt

<h4>Background: </h4> GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the GNE gene and characterized by progressive distal muscle weakness and atrophy. We report a novel variant in the GNE gene causing GM in a consanguineous Malian family. Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and f...

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Literature Corpus work: a534f5f0-a767-5a86-883a-bf05e768df78
DOI: 10.21203/rs.3.rs-4004982/v1

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