| Autor: |
L. Regal, P.M. van Hasselt, F. Foulquier, I. Cuppen, HCMT Prinsen, K. Jansen, L. Keldermans, L. De Meirleir, G. Matthijs, J. Jaeken |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 16-19 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2014.11.006 |
| Popis: |
We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality. Analysis of ALG11 revealed compound heterozygosity involving three novel mutations: the splice site mutation c.45-2A > T, the c.36dupG duplication, and the missense mutation c.479G > T (p.G160V) that was present in both. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
