Tag: Charcot-Marie-Tooth sindrome

charcot-marie-tooth 2A

CMT2A and mithocondria: an important scientific study from USA

We wish to share this important American scientific study, whose results have been published on Science in April 2018, speaking about identification of a molecule that, by targeting the Mitofusin protein, is able to restore mitochondrial functions in mouse models of CMT2A.  Thanks to the dear Sonia Lauth of CMT

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ACCELERON

Acceleron Announces Plans to Initiate a Phase 2 Trial of ACE-083 in Charcot-Marie-Tooth Neuromuscular Disease

Acceleron announced that in the second half of 2017 it plans to initiate a Phase 2 clinical trial of ACE-083, the Company’s locally acting muscle agent, for the treatment of patients with Charcot-Marie-Tooth disease (CMT). This drug whose purpose is to both reinforce and raise locally the volume of the leg muscle has been already

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charcot-marie-tooth 2A

Gene Table of Neuromuscular Disorders

In response to recent discoveries of further implicated genes (and related mutations) in  Charcot-Marie-Tooth , the classification table of the different types relevant to this neuropathy has increased significantly. In particular, with regard to the CMT2 axonal type we arrived to classify the different forms until the letter Z ( CMT2Z ). You can see the updated

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