Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.
The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans processing. Several different subtypes have been identified in recent years. Cerebellar atrophy is a characteristic finding in subtype Ia. We report clinical, imaging and genetic findings in a patient with a particularly benign clinical course, who had a normal CT at the age of 9 months and a new, previously undescribed, combination of mutations of the PMM gene locus on chromosome 16p13 (647,691). T...Expand abstract
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- Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
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