Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

ABSTRACT:

Objective

To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships.

Methods

Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers.

Results

We evaluated 87 males who had a mean age of 41 years (range 10-78 years) and 73 females who had a mean age of 46 years (range 15-84 years). Sensory-motor polyneuropathy affects both sexes, more severely in males than in females, and there was a strong correlation between age and disease burden in males but not in females. Compared with females, males had more severe reduction in motor and

SUBMITTER: Panosyan FB 

PROVIDER: S-EPMC5577965 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature