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

Archives of Neurology

Volumn 61, Issue 7, 2004, Pages 1108-1110

  Quintans, Beatriz ^a,b   Sanchez Andrade, Amalia ^c   Teijeira, Susana ^a   Fernandez Hojas, Roberto ^a   Rivas, Eloy ^a   López, María José ^c   Navarro, Carmen ^a  

^a HOSPITAL DO MEIXOEIRO   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c HOSPITAL XERAL CALDE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCOGEN PHOSPHORYLASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; PYGM GENE; RESTRICTION MAPPING; SEQUENCE ANALYSIS;

ADULT; EXONS; FEMALE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MUTATION; PEDIGREE; SEQUENCE DELETION;

EID: 3142688338     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.7.1108     Document Type: Article

References (22)

1. Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick R. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins. 1987;2:177-187.
2. Kubisch C, Wicklein EM, Jentsch TJ. Molecular diagnosis of McArdle's disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. Hum Mutat. 1998;12:27-32.
3. Tsujino S, Rubin LA, Shanske S, DiMauro S. An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Hum Mutat. 1994;4:73-75.
4. Bartram C, Edwards RH, Clague J, Beynon RJ. McArdle's disease: a rare frame shift mutation in exon 1 of the muscle glycogen phosphorylase gene. Biochim Biophys Acta. 1994;1226:341-343.
5. Tsujino S, Shanske S, DiMauro S. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 1993;329:241-245.
6. Deschauer M, Hertel K, Zierz S. Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. Muscle Nerve, 2003;27:105-107.
7. Gamez J, Fernandez R, Bruno C, et al. A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact. Muscle Nerve. 1999;22:1136-1138.
8. Martin MA, Rubio JC, Buchbinder J, Fernandez-Hojas R. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. Ann Neurol. 2001;50:574-581.
9. Martin MA, Rubio JC, Campos Y, Vilchez J, Cabello A, Arenas J. Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease. Hum Mutat. 2000;15:294-298.
10. Deschauer M, Opalka JR, Lindner A, Zierz S. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. Mol Genet Metab. 2001;74:489-491.
11. Tsujino S, Shanske S, Nonaka I, et al. Three new mutations in patients with myophosphorylase deficiency (McArdle disease). Am J Hum Genet. 1994;54:44-52.
12. Martin MA, Rubio JC, Garcia A, et al. Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. Clin Genet. 2001;59:48-51.
13. Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S. Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum Mutat. 1995;6:276-277.
14. Rubio JC, Martin MA, Campos Y, Cabello A, Arenas J. A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease. Neuromuscul Disord. 2000;10:138-140.
15. Martin MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J. A homozygous missense mutation (A6590) in the myophosphorylase gene in a Spanish patient with McArdle's disease. Neuromuscul Disord. 2000;10:447-449.
16. Andreu AL, Bruno C, Tamburino L, et al. A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. Neuromuscul Disord. 1999;9:171-173.
17. Bruno C, Lanzillo R, Biedi C, Iadicicco L, Minetti C, Santoro L. Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. Neuromuscul Disord. 2002;12:498-500.
18. Fernandez R, Navarro C, Andreu AL, et al. A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. Arch Neurol. 2000;57:217-219.
19. Gamez J, Rubio JC, Martin MA, et al. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease. Muscle Nerve. 2003;28:380-382.
20. Browner MF, Fletterick RJ. Phosphorylase: a biological transducer. Trends Biochem Sci. 1992;17:66-71.
21. Krawczak M, Ball EV, Fenton L, et al. Human Gene Mutation Database: a biomedical information and research resource. Hum Mutat. 2000;15:45-51.
22. Chuzhanova NA, Anassis EJ, Ball EV, Krawczak M, Cooper DN. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat. 2003;21:28-44.