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

Wuyts Wim | Zendy; Reyniers Edwin | Zendy; Ceuterick Chantal | Zendy; Storm Katrien | Zendy; de Barsy Thierry | Zendy; Martin JeanJacques | Zendy

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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.

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