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KMID : 0613820200300080672
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Journal of Life Science
2020 Volume.30 No. 8 p.672 ~ p.679
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A Novel PHKA1 Mutation in a Patient with Glycogen Storage Disease Type IXD
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Kim Hye-Jin
Nam Soo-Hyun
Kim Sang-Beom
Chung Ki-Wha
Choi Byung-Ok
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Abstract
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Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affected individuals may develop muscle weakness, degeneration, and cramps, as well as abnormal muscle pain and stiffness after exercise. It has been reported that mutations in the PHKA1 gene which encodes the alpha subunit of muscle phosphorylase kinase cause GSD9D. In this study, we examined a Korean GSD9D family with a c.3314T>C (p.I1105T) mutation in the PHKA1 gene. This mutation has not been previously reported in any mutation database nor was it found in 500 healthy controls. The mutation region is well conserved in various other species, and in silico analysis predicts that it is likely to be pathogenic. To date, only seven mutations in the PHKA1 gene have been documented, and this is the first report of Korean GSD9D patients. This study also describes and compares the clinical symptoms and pathological conditions of previously reported cases and these Korean patients. We believe that our findings will be useful for the molecular diagnosis of GSD9D.
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KEYWORD
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Distal myopathy, Glycogen storage disease type 9D, MRI, mutation, PHKA1
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