Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

Neurology

Volumn 61, Issue 10, 2003, Pages 1432-1434

  Fernandez Cadenas, I ^a   Andreu, A L ^a   Gamez, J ^a   Gonzalo, R ^a   Martin M A ^b   Rubio, J C ^b   Arenas, Joaquín ^b  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYCOGEN PHOSPHORYLASE; LYSINE; MESSENGER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; DNA POLYMORPHISM; EXON; GENE MUTATION; GENE SILENCING; GENETIC ORGANIZATION; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; INTRON; MOLECULAR GENETICS; MOSAICISM; PRIORITY JOURNAL; RNA SPLICING;

EID: 0345659221     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.61.10.1432     Document Type: Article

References (10)

1. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 1951;10:13-33.
2. Martin MA, Rubio JC, Buchbinder J, et al. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. Ann Neurol 2001;50:574-581.
3. DiMauro S, Andreu AL, Bruno C, Hadjigeorgiou GM. Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Curr Mol Med 2002;2:189-196.
4. Valentine CR. The association of nonsense codons with exon skipping. Mutat Res 1998;411:87-117.
5. Gámez J, Rubio Juan C, Martín Miguel A, et al. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease. Muscle Nerve 2003 (in press).
6. Andreu AL, Bruno C, Gamez J, et al. Molecular genetic analysis of McArdle's disease in Spanish patients. Neurology 1998;51:260-262.
7. Manfredi G, Silvestri G, Servidei S, et al. Manifesting heterozygotes in McArdle's disease; clinical, morphological and biochemical studies in a family. J Neurol Sci 1993;115:91-94.
8. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285-298.
9. Hoffmeyer S, Nurnberg P, Ritter H, et al. Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. Am J Hum Genet 1998;62:269-277.
10. Fukao T, Tashita H, Teramoto T, et al. Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia. Hum Mutat 1998;Suppl 1:S223-S225.