Latest scientific studies on Pubmed about CMT2A


We would like to share with you the latest scientific studies on CMT2A we recently found on Pubmed. As usual, we have divided the publications by country, respecting the classification we use on our website in the Resources section.


We report a research carried out in Saudi Arabia, in both the Department of Neurology and the Molecular Genetics Laboratory of KFSD in Dammam, Saudi Arabia, studying a family with CMT2A and its c.58C> T mutation.

Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family


We report a study on the Chinese HAN population affected by CMT (427 patients) carried out in Taipei, Taiwan. This study aims to provide a complete overview of the mutations’ frequency in Taiwanese patients with CMT and looks for genotype-phenotype correlations.

Mutation Spectrum of Charcot-Marie-Tooth Disease Among the Han Chinese in Taiwan
SWEDEN and other European centers

SWEDEN and other European centers

We report a study on mutation and mechanism causing neuropathy carried out in Sweden and at other European centers.

Altered Interplay Between Endoplasmic Reticulum and Mitochondria in Charcot-Marie-Tooth Type 2A Neuropathy

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