Latest scientific studies on Pubmed about CMT2A


In this article we propose the reading of scientific studies which come from China.

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease.

In the first one, a cohort of 150 patients unrelated with CMT from the South-East of China has been studied. Scientists found 19 new variants and 36 known mutations. Furthermore, they identified, through a genetic diagnosis, the most common genes which cause CMT in its multiple forms (one of these is MFN2!).

Generation of Induced Pluripotent Stem Cell Line, ZJUCHi002-A, From Charcot-Marie-Tooth Disease Type 2A (CMT2A) Patient With a Mutation of c.752C> T MFN2.

The second is a study relating to the creation of induced pluripotent stem cells from the urine of 8-year-old boy with CMT2A.

erratum in

Q Zhang et al. Stem Cell Res 41, 101507. Dec 2019. PMID 31439445.

Structural Insights Into 2-mitofusin of Human Mitochondrial Fusion and CMT2A Onset.

The third is a study on the MFN2 process that leads to neuropathy.

Have a good reading and feel free to contact us for any doubt.

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