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

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) h...

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Bibliographic Details
Published in:American journal of medical genetics 2005-02, Vol.133A (1), p.82-84
Main Authors: Wuyts, Wim, Reyniers, Edwin, Ceuterick, Chantal, Storm, Katrien, de Barsy, Thierry, Martin, Jean‐Jacques
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosomes, Human, X - genetics
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Frameshift Mutation
General aspects. Genetic counseling
Humans
Male
Medical genetics
Medical sciences
Microscopy, Electron
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscle, Skeletal - ultrastructure
Muscular Diseases - enzymology
Muscular Diseases - genetics
Muscular Diseases - pathology
Mutation
myopathy
PHKA1
phosphorylase kinase
Phosphorylase Kinase - deficiency
Phosphorylase Kinase - genetics
Protein Subunits - genetics
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Summary: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.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.30517