McArdle's disease: Molecular genetics and metabolic consequences of the phenotype

Muscle & Nerve

Volumn 18, Issue 14 S, 1995, Pages S18-S22

  Beynon, Robert J ^a   Bartram, Clare ^a   Hopkins, Pam ^a   Toescu, Veronica ^b   Gibson, Henry ^b   Phoenix, Joanne ^b   Edwards, Richard H T ^b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

McArdle's disease; myophosphorylase deficiency; pyridoxine; therapy; vitamin B6

Indexed keywords

GLYCOGEN PHOSPHORYLASE; MESSENGER RNA; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; PHOSPHORYLASE;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL TRIAL; CONFERENCE PAPER; ENZYME DEFICIENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MUSCLE FATIGUE; MUSCLE FORCE; ORAL DRUG ADMINISTRATION; PHENOTYPE; PRIORITY JOURNAL; PYRIDOXINE DEFICIENCY; VITAMIN INTAKE; VITAMIN METABOLISM; ARTICLE; EXERCISE; FATIGUE; GENETICS; METABOLISM; MOLECULAR GENETICS; MUSCLE CONTRACTION; MUTATION; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; EXERCISE; FATIGUE; GLYCOGEN STORAGE DISEASE TYPE V; HUMAN; MOLECULAR SEQUENCE DATA; MUSCLE CONTRACTION; MUTATION; PHENOTYPE; PHOSPHORYLASES; PYRIDOXINE; SUPPORT, NON-U.S. GOV'T;

EID: 0028998401     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.880181406     Document Type: Article

References (24)

1. McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene
2. McArdle's disease—a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
3. A suggested nomenclature for designating mutations
4. Vitamin B6 requirements and recommendations
5. Protein degradation in normal and abnormal muscle—a study of glycogen phosphorylase
6. Increased muscle phosphorylase in rats fed high levels of vitamin B‐6
7. The behaviour of muscle phosphorylase as a reservoir of vitamin B‐6 in the rat
8. In vivo evidence for a vitamin B‐6 requirement in carnitine synthesis
9. Relationship between ammonia, heart rate and exertion in McArdle's disease
10. 6 kinetics in vivo using chromi administration of labelled pyridoxine
11. Human vitamin B‐6 pools estimated through muscle biopsies
12. Myofibrillar activation failure in McArdle's disease
13. The effect of pyridoxine deficiency on muscle and liver phosphorylase
14. Metabolism of labelled pyridoxine in the rat
15. Phosphorylase and related enzymes of glycogen metabolism
16. The effects of pyridoxine deficiency on liver and muscle phosphorylase of two inbred strains of mice
17. Myopathy due to a defect in muscle glycogen breakdown
18. Molecular heterogeneity in McArdle's disease
19. An A to C substitution involving the translation initiation codon in patients with myophosphorylase deficiency (McArdle's disease)
20. Molecular genetic heterogeneity of myosphosphorylase deficiency (McArdle's disease)
21. Three new mutations in patients with myophosphorylase deficiency (McArdle's disease)
22. Metabolism of branched‐chain amino acids and ammonia during exercise: clues from McArdle's disease
23. Exercise induced activation of muscle branched chain 2‐oxo acid dehydrogenase in patients with McArdle's disease
24. Amino acid metabolism in McArdle's syndrome