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Article

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

American journal of human genetics - 1 May 1994

Tsujino S, Servidei S, Tonin P, Shanske S, Azan G, DiMauro S

Abstract excerpt

We have identified three novel mutations in four non-Ashkenazi Italian patients with muscle phosphofructokinase (PFK-M) deficiency (Tarui disease). Patient 1 was homozygous for an A-to-C substitution at the 3' end of intron 6 of the PFK-M gene, changing the consensus splice-junction sequence AG to CG. The mutation leads to activation of two cryptic splice sites in exon 7, resulting in one 5 bp- and one 12...

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Identifiers

PMID: 7513946
PMCID: PMC1918246

Genes

CGA

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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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Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.PMID 7513946Read ↗

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A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).Semantic proximity Read ↗

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Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.Semantic proximity Read ↗

Phosphofructokinase deficiency; past, present and future.Semantic proximity Read ↗

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