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

Background

GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the

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

Conclusion

This study reports a novel variant in the

Déclaration de conflit d'intérêts

Competing interests: Authors declare no conflict of interest.