Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study

Annals of Neurology

Volumn 50, Issue 5, 2001, Pages 574-581

  Martin, Miguel A ^a   Rubio, Juan C ^a   Buchbinder, Jenny ^b   Fernandez Hojas, Roberto ^c   Hoyo, Pilar Del ^a   Gamez, Josep ^c   Navarro, Carmen ^d   Fernandez, Jose M ^c   Cabello, Ana ^a   Campos, Yolanda ^a   Cervera, Carlos ^d   Culebras, Jose M ^e   Andreu, Antoni L ^d   Fletterick, Robert ^b   Arenas, Joaquin ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HOSPITAL DO MEIXOEIRO   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

^e UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BASE PAIRING; CHILD; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIGENE FAMILY; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BINDING SITES; CHILD; FEMALE; GENETIC SCREENING; GENOTYPE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPAIN;

EID: 0034753605     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1225     Document Type: Article

References (33)

1. The family of glycogen phophorylases: Structure and function
2. Phosphorylase: A biological transducer
3. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase
4. High resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11
5. Myopathy due to a defect in muscle glycogen breakdown
6. A functional disorder of muscle associated with the absence of phophorylase
7. Chronic progressive myopathy with myoglobinuria: Demonstration of a glycogenolytic defect in the muscle
8. McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
9. McArdle's disease: A rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene
10. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
11. Three new mutations in patients with myophosphorylase deficiency (McArdle, disease)
12. An A-to-C substitution involving the translation initiation codon in a patient with myophophorylase deficiency (McArdle's disease)
13. Molecular diagnosis of McArdle, disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation
14. Mutation analysis in myophosphorylase deficiency (McArdle's disease)
15. A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease
16. A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease
17. Molecular characterization of McArdle's disease in two large Finnish families
18. A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact
19. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease
20. A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease
21. Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease
22. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease
23. Resolution of a mispaired secondary structure intermediate could account for a novel microinsertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease
24. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)
25. Molecular genetic analysis of McArdle's disease in Spanish patients
26. Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy
27. Diagnosis of McArdle's disease by molecular genetic analysis of blood
28. McArdle's disease associated with homozygosity for the missense mutation at codon 204 of the myophosphorylase gene
29. A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle, disease
30. Evolution of allosteric control in glycogen phosphorylase
31. Tracking conformational states in allosteric transitions of phosphorylase
32. Cooperative binding is not required for activation of muscle phophorylase