Back to search

Article

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

2022-08-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>GNE myopathy is an autosomal recessive distal myopathy caused by biallelic variants in <italic>GNE</italic>,<italic> </italic>which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese patients with GNE myopathy, <italic>GNE</italic> c.620A>T, occurs in the expected number of patients;...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
d57236ca-3d8c-5b5e-8b79-2e5616bd93b0
DOI
10.21203/rs.3.rs-1892073/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A&gt;T, in patients with GNE myopathyDOI 10.21203/rs.3.rs-1892073/v1
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.Semantic proximity
Mutation update for GNE gene variants associated with GNE myopathy.Semantic proximity
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.Semantic proximity
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.Semantic proximity
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).Semantic proximity
Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.Semantic proximity
GNE myopathy: from clinics and genetics to pathology and research strategiesSemantic proximity
A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.Semantic proximity
Clinical, genetic, and pathological characterization of GNE myopathy in China.Semantic proximity
Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.Semantic proximity
Gene analysis and clinical features of 22 GNE myopathy patients.Semantic proximity
Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathySemantic proximity
Select a neighboring publication to make it the new centre.