ArticleAmerican journal of human genetics1994
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
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 9 papers.
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Who cites it
9 citing papers in PubMed.
- Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.Neuromuscular disorders : NMD · 2017Article
- Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- McArdle Disease and Exercise Physiology.Biology · 2014Article
- McArdle disease: molecular genetic update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2007Review
- Molecular genetics of McArdle's disease.Current neurology and neuroscience reports · 2007Review
- Intrinsic differences between authentic and cryptic 5' splice sites.Nucleic acids research · 2003Article
- Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.Journal of medical genetics · 1997Article
- Genetic deficiencies of the glycogen phosphorylase system.Human genetics · 1996Review
- Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
We report three new mutations in patients with myophosphorylase deficiency (McArdle disease). A splice-junction mutation (G-to-A transition at the 5' end of intron 14) and a missense mutation (CTG to CCG at codon 291, changing an encoded leucine to a proline) were identified in Caucasian patients who were heterozygous for a common mutation reported elsewhere (CGA [Arg] to TGA [stop]) at codon 49. The splice-junction mutation destroyed the consensus sequence at the 5' splice site, and a cryptic splice site 67 bp upstream was recognized instead. As a result, there was a 67-bp deletion in the 3'-terminal region of exon 14 in the transcript, resulting in a frameshift with premature translation termination. A deletion of a single codon, 708/709 (TTC, specifying phenylalanine) was identified in Japanese patients. Two affected siblings were homozygotes, and their parents were heterozygotes. A third, unrelated patient was heterozygous for the same mutation, while the myophosphorylase gene on the other allele was only faintly expressed.
Indexed as
Identifiers
8279469PMC1918063What 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.