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

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...

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Pubblicato in:Ann Lab Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society for Laboratory Medicine 2017
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5587825/
https://ncbi.nlm.nih.gov/pubmed/28840990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2017.37.6.516
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