Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.

ABSTRACT:

Objective

To identify a new genetic cause in patients segregating distal hereditary motor neuropathy (dHMN) with an autosomal recessive pattern.

Methods

Whole-exome sequencing was conducted in two siblings and was combined with segregation analysis. Additionally, 83 unrelated dHMN patients with unknown genetic cause were screened. RNA analysis was performed using blood lymphocytes and HEK293 cells transfected with mutant plasmids. Immunohistochemistry and Western blot analysis was applied to the nerve tissue. The enzymatic activities of mutant proteins were measured in the cultured cells to verify the pathogenicity of variants.

Results

The clinical features of the patients showed late-onset phenotype of distal motor neuropathy without sensory involvement. We identifie

SUBMITTER: Hong D 

PROVIDER: S-EPMC6764622 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature