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

Abstract

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) have been reported. We describe a male patient with myopathy and absent muscle PhK activity caused by a frameshift mutation in the gene encoding the alpha subunit of PhK on chromosome Xq12-q13.

• Authors: Wim Wuyts, Edwin Reyniers, Chantal Ceuterick, Katrien Storm, Thierry de Barsy, Jean-Jacques Martin
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 133A Issue 1 Pg. 82-4 (Feb 15 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15637709 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2005 Wiley-Liss, Inc.

Chemical References

• Protein Subunits
• DNA
• Phosphorylase Kinase

Topics

• Adult
• Chromosomes, Human, X (genetics)
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• Frameshift Mutation
• Humans
• Male
• Microscopy, Electron
• Muscle, Skeletal (metabolism, pathology, ultrastructure)
• Muscular Diseases (enzymology, genetics, pathology)
• Mutation
• Phosphorylase Kinase (deficiency, genetics)
• Protein Subunits (genetics)