NIH R01 · 2024
Role of a Fatty Acid Chaperone in Schwann Cell Myelination
Charcot-Marie-Tooth disease (CMT) is a group of disorders and the most common inherited peripheral neuropathy with a prevalence of 1:2500. Approximately 1,000 small mutations (missense, nonsense, small deletion or insertion, splice alterations) in more than 40 genes are responsible for CMT. CMT severely impacts the is orthopedic quality of life for patients and no effective prevention or cure for CMT, and patient care is limited to physical and occupational therapies, devices, and pain relief, which is often suboptimal. accounts for significant lifelong disability and important economic loss. There CMT type 1 is a demyelinating peripheral neuropathy characterized by reduced motor nerve…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.