{Reference Type}: Case Reports
{Title}: A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
{Author}: Milella G;Amati A;Lastella P;Zanfardino P;Petruzzella V;Zoccolella S;
{Journal}: Clin Neurol Neurosurg
{Volume}: 237
{Issue}: 0
{Year}: 2024 02 3
{Factor}: 1.885
{DOI}: 10.1016/j.clineuro.2024.108158
{Abstract}: Charcot-Marie-Tooth disease type 2P (CMT2P; MIM #614436) is a specific type of axonal neuropathy caused by mutations in the LRSAM1 gene, which is a RING-type E3 ubiquitin ligase. CMT2P can be inherited in two ways: as an autosomal dominant or autosomal recessive trait. In this report, we describe the clinical characteristics of a family with axonal sensory-motor neuropathy caused by a new variant of the LSRAM1 gene, which is associated with early-onset autosomal dominant CMT2P.