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

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

Phosphoglycerate kinase (PGK)1 deficiency is an X-linked inherited disease associated with different clinical presentations, sometimes as myopathic affectation without hemolytic anemia. We present a 40-year-old male with a mild psychomotor delay and mild mental retardation, who developed progressive...

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Bibliographic Details
Main Authors: Virginia Garcia-Solaesa, Pablo Serrano-Lorenzo, Maria Antonia Ramos-Arroyo, Alberto Blázquez, Inmaculada Pagola-Lorz, Mercè Artigas-López, Joaquín Arenas, Miguel A. Martín, Ivonne Jericó-Pascual
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:Genes
Subjects:
phosphoglycerate kinase 1 gene (<i>pgk1</i>)
pgk1 deficiency
myopathic form
missense variant
abnormalities in mrna splicing
Online Access:https://www.mdpi.com/2073-4425/10/10/785

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https://www.mdpi.com/2073-4425/10/10/785

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