Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene

Mutations in guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) can result in muscular dystrophy variants with hypoglycosylated alfa-dystroglycan. The firsts patients described with defects in this gene showed a broad phenotypic spectrum ranging from congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. More recently, a relationship between defects in this gene has been associated to congenital myasthenic syndromes (CMS).

Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Nascimento, C. Ortez, D. Natera, A. Frongia, M. Alarcon, D. Itzep, C. Jou, A. Codina, J. Corbera, C. Jimenez – Mallebrera, M. Rodriguez, L. González, P. Gallano, J. Colomer Source Type: research