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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Detalles Bibliográficos
Autores principales: Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A., Jericó-Pascual, Ivonne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826351/
https://www.ncbi.nlm.nih.gov/pubmed/31658606
http://dx.doi.org/10.3390/genes10100785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826351/
https://www.ncbi.nlm.nih.gov/pubmed/31658606
http://dx.doi.org/10.3390/genes10100785

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