Article
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
European journal of medical genetics - 1 Feb 2015
Kariminejad Ariana, Rajaee Ahmad, Ashrafi Mahmoud Reza, Alizadeh Houman, Tonekaboni Seyed Hasan, Malamiri Reza Azizi, Ghofrani Mohamad, Karimzadeh Parvaneh, Mohammadi Mohsen Molla, Baghalshooshtari Ali, Bozorgmehr Bita, Kariminejad Mohamad Hasan, Postma N, Abbink Truus E M, van der Knaap Marjo S
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #604004) is a rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen white matter of the cerebral hemispheres and subcortical cysts in the anterior temporal and frontoparietal...
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