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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-10-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/10/10/785 |