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A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series

Abstract Background GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants. These variants display considerable ethn...

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Principais autores: Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2025-08-01
סדרה:Journal of Medical Case Reports
נושאים:
GNE myopathy
P. Val727Met
Distal myopathy
Founder variant
Next generation sequencing
Neuromuscular disease
גישה מקוונת:https://doi.org/10.1186/s13256-025-05524-4
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