Wuyts Wim, Reyniers Edwin, Ceuterick Chantal, Storm Katrien, de Barsy Thierry, Martin Jean-Jacques
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Am J Med Genet A. 2005 Feb 15;133A(1):82-4. doi: 10.1002/ajmg.a.30517.
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.
磷酸化酶激酶（PhK）缺乏是取决于受累组织的多种临床症状的根本原因。迄今为止，仅有少数由磷酸化酶激酶α亚基（PHKA1）编码基因突变导致的与肌肉PhK缺乏相关的肌病病例报道。我们描述了一名男性患者，其患有肌病且肌肉PhK活性缺失，这是由位于Xq12 - q13染色体上的PhKα亚基编码基因中的移码突变引起的。
