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A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

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Figure 1

(a) Axial T2 weighted MRI shows bilateral, diffuse, symmetric hyperintense lesions in the cerebral white matter. (b) Axial T1 weighted MRI shows bilateral temporal cysts.
(a) Axial T2 weighted MRI shows bilateral, diffuse, symmetric hyperintense lesions in the cerebral white matter. (b) Axial T1 weighted MRI shows bilateral temporal cysts.

Figure 2

(A) Integrative Genomics Viewer (IGV) sequence data of the parents showed heterozygous c.768+ 2T>C mutation. (B) The IGV sequence data of the patient showed homozygous c.768+2T>C mutation.
(A) Integrative Genomics Viewer (IGV) sequence data of the parents showed heterozygous c.768+ 2T>C mutation. (B) The IGV sequence data of the patient showed homozygous c.768+2T>C mutation.

Figure 3

(A) Exon 9 was not found in cDNA (cDNA sequence of the patient, reverse strand). (B) The parents had two strands for the heterozygous mutation. Exons 9 and 10 were overlapping in cDNA (cDNA sequence of the parents, forward strand).
(A) Exon 9 was not found in cDNA (cDNA sequence of the patient, reverse strand). (B) The parents had two strands for the heterozygous mutation. Exons 9 and 10 were overlapping in cDNA (cDNA sequence of the parents, forward strand).
eISSN:
1311-0160
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicine, Basic Medical Science, other