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Article

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Cerebellum (London, England) - 1 Jun 2012

Casado M, O'Callaghan M M, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R

Abstract excerpt

Phosphomannomutase 2 deficiency (PMM2-CDG) patients may present as mild phenotypes, with the cerebellum frequently involved. In those cases, false-negative results in screening may occur when applying conventional biochemical procedures. Our aim was to report two patients with a diagnosis of PMM2-CDG presenting with mild clinical phenotype. Patient 1-at 9 months of age, she presented with just psychomotor delay,...

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Source

Identifiers

PMID: 22012410
DOI: 10.1007/s12311-011-0313-y

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).PMID 22012410Read ↗

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.Semantic proximity Read ↗

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Semantic proximity Read ↗

Three families with mild PMM2-CDG and normal cognitive development.Semantic proximity Read ↗

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.Semantic proximity Read ↗

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.Semantic proximity Read ↗

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counselingSemantic proximity Read ↗

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].Semantic proximity Read ↗

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.Semantic proximity Read ↗

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.Semantic proximity Read ↗

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.Semantic proximity Read ↗

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Semantic proximity Read ↗

A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases DeletionSemantic proximity Read ↗

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