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Article

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

American journal of medical genetics. Part A - 15 Feb 2005

Wuyts Wim, Reyniers Edwin, Ceuterick Chantal, Storm Katrien, de Barsy Thierry, Martin Jean-Jacques

Abstract excerpt

Phosphorylase kinase (PhK) deficiency is the underlying cause of variable clinical symptoms depending on the tissues involved. Until today, only a few cases of myopathy associated with muscle PhK deficiency caused by a mutation in the gene encoding the alpha subunit of phosphorylase kinase (PHKA1...

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Identifiers

PMID: 15637709
DOI: 10.1002/ajmg.a.30517

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15637709-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.PMID 15637709Read ↗

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.Semantic proximity Read ↗

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesSemantic proximity Read ↗

Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.Semantic proximity Read ↗

Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.Semantic proximity Read ↗

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.Semantic proximity Read ↗

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).Semantic proximity Read ↗

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.Semantic proximity Read ↗

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.Semantic proximity Read ↗

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Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.Semantic proximity Read ↗

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.Semantic proximity Read ↗

Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.Semantic proximity Read ↗

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