Cmt and neurogenic disease

Charcot-Marie-Tooth (CMT) is the most frequent illness of peripheral nerve in pediatrics. The greater availability of genetic studies allows the characterization of the genotype and its correlation with the phenotype. To describe the genetic findings in a series of patients with CMT in Argentina. Patients under 18 years old, all with clinical and electromyographic findings compatible with CMT. Depending on the case, a study was completed for PMP22, panel CMT90 (PMP, MPZ, mitofusin, GJB1) or expanded panel.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research