Molecular genetic analysis of McArdle's disease in Spanish patients

Neurology

Volumn 51, Issue 1, 1998, Pages 260-262

  Andreu, A L ^a,b   Bruno, C ^a   Gamez, J ^b   Shanske, S ^a   Cervera, C ^b   Navarro, C ^c   Arbos, M A ^b   Tamburino, L ^a   Schwartz, S ^b   DiMauro, Salvatore ^a  

^a Columbia Coll of Phys and Surgeons ^*  (United States)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CODON; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; NONSENSE MUTATION; PRIORITY JOURNAL;

EID: 0031868255     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.1.260     Document Type: Article

References (8)

1. DiMauro S, Servidei S, Tsujino S. Disorders of carbohydrate-metabolism: glycogen storage disease. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological disease. 2nd ed. Boston: Butterworth-Heinemann, 1997:201-235.
2. Tsujino S, Shanske S, Nonaka I, DiMauro S. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve 1995;(suppl 3):S23-S27.
3. Tsujino S, Shanske S, DiMauro S. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993;329:241-245.
4. El-Schahawi M, Tsujino S, Shanske S, DiMauro S. Diagnosis of McArdle's disease by molecular genetic analysis of blood. Neurology 1996;47:579-580.
5. Bartram C, Edwards RHT, Clague J, Beynon RJ. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 1993;2:1291-1293.
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7. Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y. Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single codon deletion in exon 17 is the predominant mutation. Clin Chim Acta 1995;236:81-86.
8. Vorgerdt M, Kubisch C, Burwinkel B, et al. Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann Neurol 1998;43:326-331.