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