Discover Community Create You

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

Article

A splice-site mutation causing ovine McArdle's disease.

Neuromuscular disorders : NMD - 1 Jul 1997

Tan P, Allen J G, Wilton S D, Akkari P A, Huxtable C R, Laing N G

Abstract excerpt

McArdle's disease is an autosomal recessive myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme muscle glycogen phosphorylase which releases glucose for contraction during exercise. The human cDNA has been sequenced and disease-causing mutations identified. An ovine equivalent of McArdle's disease has been diagnosed and the mutation responsible identified by PCR-amplification of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence
Share to Cattle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Genetic

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 9267848
DOI: 10.1016/s0960-8966(97)00062-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A splice-site mutation causing ovine McArdle's disease.PMID 9267848Read ↗

The molecular genetic basis of myophosphorylase deficiency (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 ↗

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

Myophosphorylase deficiency (glycogenosis type V; McArdle disease).Semantic proximity Read ↗

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 PatientsSemantic proximity Read ↗

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.Semantic proximity Read ↗

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

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.Semantic proximity Read ↗

[McArdle's disease in adults: clinical and genetic study].Semantic proximity Read ↗

McArdle's disease: molecular genetics and metabolic consequences of the phenotype.Semantic proximity Read ↗

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

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.Semantic proximity Read ↗

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