Mutations in MME gene has previously been reported to cause autosomal recessive (AR) Charcot-Marie-Tooth disease type 2 (CMT2) and also to be associated with late-onset autosomal dominant (AD) polyneuropathies. In our cohort, we found that MME mutations co-segregated with the disease following an exclusive AR pattern of inheritance. Moreover, patients carrying heterozygous mutations in our […]