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. 2012 Oct;31(2):144–153.

Table 2.

Clinical features of DM2 patients with and without R894X mutation. C/X-CCTG and R894X carriers; C/R-CCTG only carriers; F female; M male.

Feature DM2 subjects
C/X (n = 18 patients) C/R (n = 35 patients)
Nr. of patients (of 18) Mean age at onset F : M Nr. of families Nr. of patients (of 35) Mean age at onset F : M Nr. of families
Clinical myotonia 15 33 12 : 3 5 12 36 7 : 5 6
EMG myotonia 17 35 14 : 3 5 24 38 16 : 8 8
Muscle weakness 8 36 5 : 3 4 15 38 12 : 3 7
Proximal muscle pain 7 35 4 : 3 4 5 39 5 : 0 6
Cataracts 7 39 6 : 1 4 14 43 2 : 1 9
Cardiac arrhythmia 1 25 1 : 0 1 2 31 10 : 5 2
Abnormal serum levels of CK, γGT or cholesterol 8 35 6 : 2 3 15 37 22 : 13 13