ArticleAmerican journal of human genetics1994
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 56 citations in OpenAlex.
- Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.Frontiers in genetics · 2024Article
- Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.Frontiers in neurology · 2019Article
- Article
- PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.Neurology. Genetics · 2015Article
- The sarcomeric M-region: a molecular command center for diverse cellular processes.BioMed research international · 2015Review
- Genomics and genetics in the biology of adaptation to exercise.Comprehensive Physiology · 2011Review
- Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS.Dynamic medicine : DM · 2005Article
- Biased exon/intron distribution of cryptic and de novo 3' splice sites.Nucleic acids research · 2005Article
- Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.American journal of human genetics · 1996Article
- Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
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 bp-deleted transcript. An affected brother was also homozygous, and both parents were heterozygous, for the splice-junction mutation. Patient 2 was homozygous for a G-to-C substitution at codon 39, changing an encoded arginine (CGA) to proline (CCA). Patient 3 was heterozygous for an A-to-C substitution at codon 543, changing an encoded aspartate (GAC) to alanine (GCC); the PFK-M gene on the other allele was not expressed, but sequencing of the reported regulatory region of the gene did not reveal any mutation.
Indexed as
Identifiers
7513946PMC1918246W1519764300What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.