CMT2A: recent scientific studies published in Pubmed

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In this article we propose the reading of scientific studies that come from the United States.

The first one is a study about two US families with a new late-onset mutation:

ate onset CMT2A in a Family with an MFN2 Variant: c.2222T> G (p.Leu741Trp).

The second is a study on fibroblasts from 3 patients with different mutations to understand the mechanisms that create the pathology.

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membranes function but do not impair bioenergetics.

The third is a study of large family with new mutations and many variants.

A novel mutation causes MFN2 variable clinical severity in a multi-generational family CMT2.

The fourth is instead a study on the use of NGS for the diagnosis.

Charcot-Marie-Tooth: From Molecules to Therapy.

The fifth studies the role of MFN1 and MFN2.

Identification of a region mitofusin specificity That Confers unique activities to Mfn1 and MFN2.

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