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).

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