A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation: Potential candidates for enzyme replacement therapy (abstract).
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Periodical |
| Magazine / Source | Neuromuscular Disorders |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | Pompe Disease |
| Description | A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation is described and discussed. |