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Figure 3 | BMC Medical Genetics

Figure 3

From: Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Figure 3

Correlation of GNE transcript length with c.1816+5G>A splice mutation genotype. RNA was extracted from muscle biopsy tissue for subject 1159-1 and from saliva for subjects 1159-2 and 1159-3. By capillary electrophoresis, RT-PCR produced a single band of the expected size in control samples and 1159-2, the mother of the proband, in whom the c.1816+5G>A mutation was absent. The proband (1159-1), and her father (1159-3), both of whom were heterozygous for the c.1816+5G>A mutation, showed the full length band and a shorter band that lacked exon 10.

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BMC Medical Genetics

ISSN: 1471-2350

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