Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

doi:10.1016/0009-8981(95)06044-x

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

Clinica chimica acta; international journal of clinical chemistry - 30 Apr 1995

Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y

Abstract excerpt

We report molecular genetic analysis of 11 Japanese patients with myophosphorylase deficiency (McArdle's disease). Four reported mutations, frequently observed in patients with McArdle's disease, in exons 1, 5, 14 and 17 were investigated. Seven patients out of 11 were homozygous for a single-codon deletion at codon 708/709 in exon 17 and one patient was heterozygous for a single-codon deletion with an unknown...

Topics

Adolescent
Adult
Base Sequence
Codon
DNA
Electrophoresis, Polyacrylamide Gel
Exons
Female
Gene Deletion
Glycogen Storage Disease Type V
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Japan

Male

Molecular Sequence Data

Muscles

Mutation

Phosphorylases

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 7664468
DOI: 10.1016/0009-8981(95)06044-x

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7664468-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.PMID 7664468Read ↗

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.Semantic proximity Read ↗

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.Semantic proximity Read ↗

Three new mutations in patients with myophosphorylase deficiency (McArdle disease).Semantic proximity Read ↗

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).Semantic proximity Read ↗

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.Semantic proximity Read ↗

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.Semantic proximity Read ↗

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)Semantic proximity Read ↗

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.Semantic proximity Read ↗

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.Semantic proximity Read ↗

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.Semantic proximity Read ↗

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.Semantic proximity Read ↗

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.