Expanding the clinicopathological-genetic spectrum of glycogen storage disease type ixd by a chinese neuromuscular center

HIGHLIGHTS

• who: Huan Yang from the Peking University, China have published the research: Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center, in the Journal: (JOURNAL)
• what: The authors identified three GSD IXd patients with PHKA1 mutations from three unrelated Chinese families and analyzed their clinical features, muscle pathology, and genetic variants in detail.

SUMMARY

The research expands the spectrum of GSD IXd due to PHKA1 mutations in a Chinese neuromuscular center. Only 13 patients with GSD IXd have been reported to have mutations in . . .

 



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