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:
The second is a study on fibroblasts from 3 patients with different mutations to understand the mechanisms that create the pathology.
The third is a study of large family with new mutations and many variants.
The fourth is instead a study on the use of NGS for the diagnosis.
The fifth studies the role of MFN1 and MFN2.