Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying <i>MME</i> mutations

Abstract

<i>MME</i> mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that <i>MME</i> variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying <i>MME</i> mutations, especially with a view to genetic counselling.