A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene


TRAPPC11 is a component of the transport protein particle complex (TRAPPC) which mediates trafficking of vesicles from the endoplasmic reticulum to the Golgi system. Recently mutations in TRAPPC11 have been described in patients with neurological and neuromuscular diseases ranging from congenital muscular dystrophy to limb-girdle-muscular dystrophy and myopathy with ataxia and intellectual disability. Here we report the case of a 7 years old child with a severe myopathy, central nervous system involvement cause by mutations in TRAPPC11 gene.


Leave A Reply