| Autor: |
Vellarikkal, S. K., Jayarajan, R., Verma, A., Ravi, R., Senthilvel, V., Kumar, A., Saini, L., Gulati, S., Lal, M., Mathur, A., Chhetri, M. K., Faruq, M., Scaria, V., Sivasubbu, S. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Aug2018, Vol. 94 Issue 2, p271-273, 4p, 1 Graph |
| Abstrakt: |
The article offers information on a study which deals with mutation Megalencephalic leukoencephalopathy with subcortical cysts (MLC) MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1. It mentions observation of bilateral symmetrical multifocal areas of encephalomalacia involving bilateral basitemporal antero-medial convexities using magnetic resonance imaging. It states that MLC phenotype spectrum includes macrocephaly and progressive motor dysfunction. |
| Databáze: |
Complementary Index |
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