A Novel PGK1 Gene Variant with Neurological Dysfunction, Haemolytic Anaemia and Myopathy: A Case Report from India
Author:
Affiliation:
1. Department of Paediatric Neurology, Manipal Hospital, Old Airport Road, Bengaluru, Karnataka, India
2. Department of Medical Genetics, Manipal Hospital, Old Airport Road, Bengaluru, Karnataka, India
Publisher
Medknow
Subject
Neurology (clinical)
Reference7 articles.
1. Orphanet: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
2. Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency;Chiarelli;PLoS One,2012
3. National Centre for Biotechnology Information;ClinVar
4. A novel missense variant associated with a splicing defect in a myopathic form of PGK1 deficiency in the Spanish population;Garcia-Solaesa;Genes,2019
5. A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria;Matsumaru;Intractable Rare Dis Res,2017
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