| First Author | Wehner M | Year | 1994 |
| Journal | Hum Mol Genet | Volume | 3 |
| Issue | 11 | Pages | 1983-7 |
| PubMed ID | 7874115 | Mgi Jnum | J:42850 |
| Mgi Id | MGI:1097392 | Doi | 10.1093/hmg/3.11.1983 |
| Citation | Wehner M, et al. (1994) Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet 3(11):1983-7 |
| abstractText | Heritable phosphorylase kinase (Phk) deficiency is responsible for several forms of glycogen storage disease in humans and animals that differ in mode of inheritance and tissue-specificity. Mutations affecting different subunits and isoforms of Phk are expected to contribute to this heterogeneity. In the present study, we have investigated a case of muscle-specific, adult-onset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle isoform of the alpha subunit (alpha M), a muscle-specifically expressed exon of the beta subunit, and the muscle isoform of the gamma subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in alpha M. The condition of this patient therefore is a human homolog of the X-linked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation. |
