Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Author:

Kariminejad Ariana,Rajaee Ahmad,Ashrafi Mahmoud Reza,Alizadeh Houman,Tonekaboni Seyed Hasan,Malamiri Reza Azizi,Ghofrani Mohamad,Karimzadeh Parvaneh,Mohammadi Mohsen Molla,Baghalshooshtari AliORCID,Bozorgmehr BitaORCID,Kariminejad Mohamad Hasan,Postma N.,Abbink Truus E.M.,van der Knaap Marjo S.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference23 articles.

1. A case of megalencephalic leukoencephalopathy with subcortical cysts in an Iranian consanguineous family;Ashrafi;Iran J Pediatr,2009

2. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients;Ben-Zeev;J Child Neurol,2001

3. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1;Ilja Boor;Hum Mut,2006

4. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts;Bugiani;Neuropediatrics,2003

5. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation;Gorospe;Neurology,2004

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