Publications by authors named "Pavel Drimal"
Orphanet J Rare Dis
August 2016
Article Synopsis
- Inherited peripheral neuropathies (IPN) are the most common inherited neurological disorder, characterized by a wide range of clinical and genetic diversity.
- A custom gene panel was developed and tested on 198 patients to identify mutations linked to IPN after excluding more common causes.
- The study found causative mutations in 26% of patients, while results were inconclusive for 16%, and no significant variants were identified in 58%, demonstrating the utility and affordability of the gene panel approach in diagnosing IPN.
