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Article

Defining the pathogenicity of creatine deficiency syndrome.

Human mutation - 1 Mar 2011

Alcaide Patricia, Merinero Begoña, Ruiz-Sala Pedro, Richard Eva, Navarrete Rosa, Arias Angela, Ribes Antonia, Artuch Rafael, Campistol Jaume, Ugarte Magdalena, Rodríguez-Pombo Pilar

Abstract excerpt

This work examined nine patients with creatine deficiency syndrome (CDS): six with a creatine transport (CRTR) defect and three with a GAMT defect. Eleven nucleotide variations were detected: six in SLC6A8 and five in GAMT. These changes were analyzed at the mRNA level and specific alleles (most of which bore premature stop codons) were selected as nulls because they provoked nonsense-mediated decay activation....

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Source

Identifiers

PMID: 21140503
DOI: 10.1002/humu.21421

Genes

GAMT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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