BioMed Research International / 2014 / Article / Fig 3

Research Article

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.

We are committed to sharing findings related to COVID-19 as quickly as possible. We will be providing unlimited waivers of publication charges for accepted research articles as well as case reports and case series related to COVID-19. Review articles are excluded from this waiver policy. Sign up here as a reviewer to help fast-track new submissions.