PMC:5069600 / 39007-39606 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5069600","sourcedb":"PMC","sourceid":"5069600","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5069600","text":"Figure 7 Rate of molecular diagnosis categorized according to inheritance modes. The upper table indicates the number of patients with molecular diagnoses by modes of inheritance in 726 patients. The pie chart below shows the rate of molecular diagnosis focused on the AR mode of inheritance. Only 17 of 77 (22%) patients received a molecular diagnosis in known CMT or IPN genes. Ten patients (13%) received a new molecular diagnosis, MME gene mutations. Rate of molecular diagnosis was increased to 35%. AR = autosomal‐recessive; CMT = Charcot–Marie–Tooth; IPN = inherited peripheral neuropathy. ","tracks":[]}