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Article

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

American journal of medical genetics. Part A - 15 Aug 2008

Barone Rita, Sturiale Luisa, Sofia Vito, Ignoto Antonella, Fiumara Agata, Sorge Giovanni, Garozzo Domenico, Zappia Mario

Abstract excerpt

Congenital disorder of glycosylation (CDG) type Ia (PMM2 mutations) is the most common genetic disorder of protein N-glycosylation. The wide clinical spectrum with mild to severe impairment of neurological function and extensive allelic heterogeneity hamper phenotype-genotype comparison. We report on two male adult siblings with the PMM2 mutations c. 385G > A (p.V129M) and c. 422G > A (p.R141H) and partially...

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Share to alpha 1-Antitrypsin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Phosphotransferases (Phosphomutases)

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Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

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Source

Identifiers

PMID: 18629883
DOI: 10.1002/ajmg.a.32446

Genes

PMM2

Variants

Provenance

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