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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Figure 4

Expression analysis of the aberrant transcript obtained by the c.2647- 7G > A mutation. A Results of sequencing analysis and detection of intron 18 mutation (c.2647-7G > A [p.N882fs]) in RNAs from muscle biopsies. The mutation inserted 5 bp of the intron 18 in the cDNA sequence producing a frame shift. B Schematic representation of the primers (P1 and P2) used in real time experiment to detect only the aberrant transcript. C The histogram shows the normalized expression value of the aberrant transcript in RNA of muscle biopsies of the patients carrying the c.2647-7G > A [p.N882fs] mutation. D Linear regression analysis using SPSS 13.00 software between the age of onset of the disease and the normalized expression value of the aberrant transcript in muscle biopsies. The circles were numbered corresponding to the pedigree number.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172