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Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
Author(s) -
Wuyts Wim,
Reyniers Edwin,
Ceuterick Chantal,
Storm Katrien,
de Barsy Thierry,
Martin JeanJacques
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30517
Subject(s) - phosphorylase kinase , gene , myopathy , mutation , genetics , glycogen phosphorylase , kinase , biology , protein kinase a , enzyme , biochemistry
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. © 2005 Wiley‐Liss, Inc.