Table 4

Diagnostic tests with positive family history but normal molecular results

Case No Age (y)—sex Clinical status EMG Diagnosis
1Newborn—FEquivocal
217—MEquivocal
318—FEquivocal
420—FEquivocal
526—FEquivocal
640—FSymptomaticNormal
741—MSymptomaticMyotoniaPROMM
863—MSymptomaticMyotoniaPROMM
957—FEquivocal
  • F = female; M = male; EMG, electromyography; PROMM, proximal myotonic myopathy.