EP.18Mutations in TRAPPC11 are associated with Rett-like syndrome in absence of significant muscle involvement

Rett syndrome is a neurodevelopmental disorder characterized by loss of speech and stereotypic movements. The TRAPPC11 protein is a part of the transport protein particle complex involved in endoplasmic reticulum to Golgi transportation. As more individuals with limb-girdle muscular dystrophy are reported, the spectrum of neurological disorders associated with mutations in the TRAPPC11 gene is beginning to emerge. Infantile hyperkinetic movements, ataxia and intellectual disability have been previously published.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Vila-Bedmar, P. Quijada-Fraile, F. Martinez-Azorin, A. Hern ández-Lain, R. Cancho-Candela, N. Núñez-Enamorado, A. Camacho-Salas Source Type: research