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Article

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

25 Jun 2003

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Share to Amino Acid Enzymes and Metabolism
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PMID: 12825073
DOI: 10.1038/sj.ejhg.5200996

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Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesPMID 12825073Read ↗

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

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.Semantic proximity Read ↗

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Semantic proximity Read ↗

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.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 ↗

Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)Semantic proximity Read ↗

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Semantic proximity Read ↗

Glycogen storage disease type IX: High variability in clinical phenotype.Semantic proximity Read ↗

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.Semantic proximity Read ↗

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

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

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.Semantic proximity Read ↗

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