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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.
- Source :
-
Clinical Case Reports . Jun2017, Vol. 5 Issue 6, p961-967. 7p. - Publication Year :
- 2017
-
Abstract
- Key Clinical Message 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 analysis for the c.423+2dupT variant revealed skipping of exon 5. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 5
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 123395750
- Full Text :
- https://doi.org/10.1002/ccr3.986