A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China

We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing anal...

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Detalles Bibliográficos
Autores principales: Dai, Cong‐Ling, He, Wen‐Bin, Du, Juan, Tan, Yue‐Qiu, Lu, Guang‐Xiu, Li, Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458048/
https://www.ncbi.nlm.nih.gov/pubmed/28588848
http://dx.doi.org/10.1002/ccr3.986

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458048/
https://www.ncbi.nlm.nih.gov/pubmed/28588848
http://dx.doi.org/10.1002/ccr3.986

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