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) 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.
Wuyts
Wim
W
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. wim.wuyts@ua.ac.be
Reyniers
Edwin
E
Ceuterick
Chantal
C
Storm
Katrien
K
de Barsy
Thierry
T
Martin
Jean-Jacques
JJ
D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics
D021122:Protein Subunits; D004247:DNA; D010764:Phosphorylase Kinase