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Article

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2018

Li Chunyun, Huang Lihua, Tian Lang, Chen Jia, Li Shentang, Yang Zuocheng

Abstract excerpt

BACKGROUND: PHKG2 gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due to PHKG2 mutation is the second most common GSD IX. METHODS: We identified a novel mutation (c.553C>T, p.Arg185X) in PHKG2 in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of the PHKG2 gene was...

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Base Sequence
Child, Preschool
China
Codon, Nonsense
Glycogen Storage Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Sequence Analysis, DNA

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Identifiers

PMID: 29360628
DOI: 10.1515/jpem-2017-0170

Genes

PHKG2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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