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Fig. 2 | BMC Neurology

Fig. 2

From: A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

Fig. 2

Genomic DNA and mRNA analyses. A sequential analysis of genomic DNA obtained from the patient revealed a novel mutation in GRN (c.1118_1119delCCinsG; p.Pro373ArgX38). RT-PCR analysis using cDNA prepared from the patient’s peripheral lymphocytes revealed no expression of the mutant allele, suggesting haploinsufficiency due to nonsense-mediated mRNA decay

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BMC Neurology

ISSN: 1471-2377

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