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Table 1 Clinical and genetic findings in three CCD patents presented with myopathy

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

Subjects/reference Classical CCD Involvement of weakness Other neurological signs EMG findings MRI findings Muscle biopsy RUNX2 mutation
Case 7, Tessa et al., 2003 [17] + Limb-girdle myopathy Conductive deafness N.A. N.A. N.A. Exon 2-intron junction
(IVS2 + 2 T > A)
Case 4, Tessa et al., 2003 [17] + Limb-girdle myopathy - N.A. N.A. N.A. c.389G > A (W130X)
Index patient of the current study + Limb-girdle myopathy - Short-duration, small-amplitude polyphasic waves Atrophy with fatty infiltration patterns N.A. c.674G > A (R255Q)
  1. CCD cleidocranial dysplasia, EMG electromyography, MRI magnetic resonance imaging, N.A. not available