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Figure 1 | BMC Medical Genetics

Figure 1

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

Figure 1

Pedigree. Subjects with DNA samples available and tested are labeled with their identification number. Black-filled symbols represent individuals affected with HIBM2, with onset in their 20s or 30s. Tested patients were compound heterozygous with genotype NM_005476.5: c.[1816+5G>A]+[2086G>A]. The gray-filled symbol represents an individual presenting in his 70s with mild HIBM-like symptoms, with genotype NM_005476.5: c.[1816+5G>A]+[=]. Arrow indicates the proband.

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