Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
Figure 3
Frequencies of CMT1 and CMT2 point mutation in five studies [9, 10, 12, 13]. Numbers from our study include certainly and likely pathogenic variants, whereas the families with variants of uncertain pathogenicity have been included in the no cause detected group. Patients with intermediate forms of CMT were excluded in our study and the British and American studies but not in the Spanish and Japanese studies as intermediate forms were not differentiated; this may lead to a screw comparison. Numbers from the British study include only patients seen in their inherited neuropathy clinic and numbers from the American study include those with reported neurophysiology.
