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

Author:

Burwinkel Barbara,Hu Bin,Schroers Anja,Clemens Paula R,Moses Shimon W,Shin Yoon S,Pongratz Dieter,Vorgerd Matthias,Kilimann Manfred W

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference57 articles.

1. Chen YT : Glycogen storage diseases, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001, pp. 1521–1551.

2. Tsujino S, Nonaka I, DiMauro S : Glycogen storage myopathies. Neurol Clin 2000; 18: 125–150.

3. Kilimann MW : Glycogen storage disease due to phosphorylase kinase deficiency, in Swallow DM, Edwards YH (eds): Protein dysfunction in human genetic disease, Oxford: BIOS Scientific Publishers, 1997, pp 57–75.

4. Burwinkel B, Amat L, Gray RGF et al: Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet 1998; 102: 423–429.

5. Hendrickx J, Lee P, Keating JP et al: Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II. Am J Hum Genet 1999; 64: 1541–1549.

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