Myopathie GNE

Urtizberea, J. Andoni; Béhin, Anthony

doi:10.1051/medsci/201531s306

Cited by 4 publications

(2 citation statements)

References 28 publications

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“…The pathophysiology of the disease is not entirely elucidated to date, but hyposialylation of muscle glycans is thought to play an essential role [3,16,17]. Molecularly, GNE encodes the enzyme sialic acid epimerase, which is responsible for the last step of sialic acid biosynthesis [18][19][20].…”

Section: Discussionmentioning

confidence: 99%

“…Clinically, GM typically manifests by bilateral foot drop caused by weakness of the anterior tibialis muscles with early adulthood onset. The disease progresses slowly over time to involve skeletal muscles throughout the body, with relative sparing of the quadriceps at the late stages of the disease [3][4][5]. Other additional symptoms including thrombocytopenia, cardiomyopathy, and neuropathic features have been previously described in patients with GM [6-8].…”

Section: Introductionmentioning

confidence: 99%

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

KOTIOUMBE,

Maiga,

Bamba

et al. 2024

Preprint

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Background: 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 theGNE 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 frequent falls. Neurological examination found distalmuscle weakness and atrophy and reduced tendon reflexes in four limbs. Electroneuromyography (ENMG) showed an axonal neuropathy pattern with reduced distal motor amplitudes. Charcot-Marie-Tooth (CMT) gene panel testing (Medical Neurogenetics LLC, Atlanta, GA) was negative. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE (c.1838G>A:p.Gly613Glu), segregating with the phenotype in the family. This variant is predicted to be pathogenic by several in silicoprediction tools including CADD= 29. Moreover, protein folding model showed major structural disruptions in the mutant protein. Conclusion: This study reports a novel variant in the GNE gene causing GM, the first molecularly diagnosed in sub-Saharan Africa (SSA). It highlights the diagnosis challenges in this region and broadens the genetic spectrum of this rare disease.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%