| First Author | Schneider A | Year | 1993 |
| Journal | Nat Genet | Volume | 5 |
| Issue | 4 | Pages | 381-5 |
| PubMed ID | 8298647 | Mgi Jnum | J:15833 |
| Mgi Id | MGI:63944 | Doi | 10.1038/ng1293-381 |
| Citation | Schneider A, et al. (1993) Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Nat Genet 5(4):381-5 |
| abstractText | Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue-specificity. It is assumed that this heterogeneity is caused by mutations affecting different subunits and isoforms of Phk. As the first Phk deficiency mutation to be identified, we report a single-nucleotide insertion in the coding sequence of the Phk alpha subunit muscle isoform of the I-strain mouse. This mutation accounts for the virtually complete enzymatic deficiency, the tissue specificity and the X-linked mode of inheritance in this mutant. |
