Article
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Annals of laboratory medicine - 1 Nov 2017
Choi Sun Ah, Kim Soo Yeon, Yoon Jihoo, Choi Joongmoon, Park Sung Sup, Seong Moon Woo, Kim Hunmin, Hwang Hee, Choi Ji Eun, Chae Jong Hee, Kim Ki Joong, Kim Seunghyo, Lee Yun Jin, Nam Sang Ook, Lim Byung Chan
Abstract excerpt
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS:...
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