A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

Molecular Genetics and Metabolism

Volumn 74, Issue 4, 2001, Pages 489-491

  Deschauer, Marcus ^a   Opalka, Jens R ^a   Lindner, Alfred ^a,b   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b MARIENHOSPITAL STUTTGART   (Germany)

Author keywords

McArdle disease; Myophosphorylase; Nonsense mutation

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; NONSENSE MUTATION; PRIORITY JOURNAL;

EID: 0035694524     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3252     Document Type: Article

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