| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833686 | Molecular Genetics and Metabolism | 2012 | 7 Pages |
Abstract
⺠We report a case of PGK deficiency with anemia, myopathy and neurologic dysfunctions. ⺠Molecular and functional characterization of the new mutant that causes this deficiency, I371K, have been performed. ⺠The enzyme showed highly perturbed catalytic properties and protein instability. ⺠The molecular properties have been correlated with the clinical phenotype. ⺠Data obtained increase knowledge in genotype-phenotype correlation of rare diseases.
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Authors
Elisa Fermo, Paola Bianchi, Laurent Roberto Chiarelli, Maristella Maggi, Giuseppa Maria Luana Mandarà , Cristina Vercellati, Anna Paola Marcello, Wilma Barcellini, Agostino Cortelezzi, Giovanna Valentini, Alberto Zanella,