This is a rapidly evolving field where better understanding of pathophysiology is paving the
way to develop potentially effective treatments, part of which will soon be tested in patients …

Advances in next-generation sequencing technology, cell biology and animal models of
CMT are paving the way for rational treatments. The combination of robust natural history …

Objective: To establish reference values for isometric strength of 12 muscle groups and
flexibility of 13 joint movements in 1,000 children and adults and investigate the influence of …

The diagnosis of Mendelian disorders requires labor-intensive literature research. Trained
clinicians can spend hours looking for the right publication (s) supporting a single gene that …

Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …

Mutations in the MFN2 gene encoding Mitofusin 2 lead to the development of Charcot–Marie–
Tooth type 2A (CMT2A), a dominant axonal form of peripheral neuropathy. Mitofusin 2 is …

A causal relationship between Mitofusin (MFN) 2 gene mutations and the hereditary axonal
neuropathy Charcot-Marie-Tooth disease type 2A (CMT2A) was described over 15 years …

Objective To determine the rate of disease progression in a longitudinal natural history study
of children with Charcot‐Marie‐Tooth (CMT) disease. Methods Two hundred six (103 …

Background Exercise is potentially therapeutic for neuromuscular disorders, but a risk of
harm exists due to overwork weakness. We aimed to assess the safety and efficacy of …

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