Philippe Latour

TL;DR: A systematic screening of families with dominant CMTX for mutations in the coding region of the Cx32 gene is begun, and three novel mutations are described, including two different missense mutations at codon Arg22 (Arg22Pro and Arg22Gly), and a nonsense mutation atcodon Trp133.

TL;DR: Morphological modifications were investigated in the peripheral nerve of three unrelated patients with CMT1B and showed an Arg98His mutation in the extracellular domain of MPZ, associated with irregularly uncompacted lamellae, confirming previous studies of a well-defined correlation between mutations and morphological phenotypes.

TL;DR: A patient who presented with a chronic inflammatory demyelinating polyneuropathy due to a recent HIV infection revealed a previously asymptomatic CMT 1A disease documented by identification of the characteristic duplication on the p11.2 region of chromosome 17.

TL;DR: A heterozygous nonsense mutation corresponding to a T‐to‐A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in all patients and leads to an extracellular truncated protein, which may explain the mild phenotype.