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Fig. 3 | BMC Neurology

Fig. 3

From: A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review

Fig. 3

Family pedigree and genetic analysis of the RUNX2 gene of the index patient with CCD. a Family pedigree of the index family. Black symbols denote family members affected with CCD. The proband we described in the current study is marked with an arrow. m, mutated alleles; wt, normal alleles. b Chromatograms of direct sequencing of the RUNX2 genomic sequence. Genetic analysis reveals a single nucleotide change (c.674G > A, p.Arg225Gln, right panel) compared to the wild type sequence (left panel). The mutations identified in this study were located in the indicated position

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BMC Neurology

ISSN: 1471-2377

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