Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant
Copyright policy )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). The 691 mutation has been described only in severe cases so far. This could indicate that genotype-phenotype correlation is lower than expected.
- University of Tübingen Germany
- University of Oxford United Kingdom
Glycosylation, Brain, Humans, Infant, Female, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Carbohydrate Metabolism, Inborn Errors
Glycosylation, Brain, Humans, Infant, Female, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Carbohydrate Metabolism, Inborn Errors
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).21 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!