Article
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Metabolic brain disease - 1 Oct 2016
Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, Ismail Samira I, Hosny Heba, Omar Tarek, Effat Laila, Aglan Mona S, Temtamy Samia A, Zaki Maha S
Abstract excerpt
Two genes causing megalencephalic leukoencephalopathy with subcortical cysts (MLC) have been discovered so far. Here, we identified MLC1 and HEPACAM mutations in ten and two patients, respectively. The molecular results included an unreported inframe duplication mutation (c.929_930dupCTGCTG; p.L309dup) of MLC1 and a novel missense mutation c.293G>A (p.R98H) of HEPACAM. Further, the previously reported missense...
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