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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2025-08-01
Sarja:	Journal of Medical Case Reports
Aiheet:	GNE myopathy P. Val727Met Distal myopathy Founder variant Next generation sequencing Neuromuscular disease
Linkit:	https://doi.org/10.1186/s13256-025-05524-4
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