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.
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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)
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Copyright | (c) 2005 Wiley-Liss, Inc. |
Chemical References |
- Protein Subunits
- DNA
- Phosphorylase Kinase
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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)
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