一种伴有神经功能障碍、溶血性贫血和肌病的新型磷酸甘油酸激酶1基因变异：来自印度的病例报告 - Suppr

A Novel PGK1 Gene Variant with Neurological Dysfunction, Haemolytic Anaemia and Myopathy: A Case Report from India.

作者信息

Prabhu Sameeta M, Banerjee Bidisha, Shetty Mitesh

机构信息

Department of Paediatric Neurology, Manipal Hospital, Old Airport Road, Bengaluru, Karnataka, India.

Department of Medical Genetics, Manipal Hospital, Old Airport Road, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2023 Sep-Oct;26(5):814-816. doi: 10.4103/aian.aian_428_23. Epub 2023 Oct 13.

DOI:10.4103/aian.aian_428_23

PMID:38022434

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10666852/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdf6/10666852/0d8825eb11ef/AIAN-26-814-001.jpg

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本文引用的文献

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Genes (Basel). 2019 Oct 10;10(10):785. doi: 10.3390/genes10100785.

A novel mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Intractable Rare Dis Res. 2017 May;6(2):132-136. doi: 10.5582/irdr.2017.01020.

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

PLoS One. 2012;7(2):e32065. doi: 10.1371/journal.pone.0032065. Epub 2012 Feb 14.

PGK deficiency.

Br J Haematol. 2007 Jan;136(1):3-11. doi: 10.1111/j.1365-2141.2006.06351.x.

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Br J Haematol. 2006 Jul;134(2):233-7. doi: 10.1111/j.1365-2141.2006.06143.x. Epub 2006 Jun 1.

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A Novel PGK1 Gene Variant with Neurological Dysfunction, Haemolytic Anaemia and Myopathy: A Case Report from India.

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