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

Diagnosis of McArdle's disease by molecular genetic analysis of blood.

Neurology - 1 Aug 1996

el-Schahawi M, Tsujino S, Shanske S, DiMauro S

Abstract excerpt

We analyzed leukocyte DNA from 32 patients with suspected McArdle's disease, 24 of whom had biochemically or histochemically proven myophosphorylase deficiency. We found that 19 were homozygous for the most common mutation at codon 49, 2 were compound heterozygotes, and 1 was a manifesting hetero...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Mutation
Share to Phosphorylases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8757044
DOI: 10.1212/wnl.47.2.579

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8757044-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosis of McArdle's disease by molecular genetic analysis of blood.PMID 8757044Read ↗

Molecular genetic analysis of McArdle's disease in Spanish patients.Semantic proximity Read ↗

Molecular Genetic Heterogeneity 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 ↗

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.Semantic proximity Read ↗

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

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

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

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.Semantic proximity Read ↗

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.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 genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.Semantic proximity Read ↗

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.Semantic proximity Read ↗

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