Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

Muscle and Nerve

Volumn 27, Issue 1, 2003, Pages 105-107

  Deschauer, Marcus ^a   Hertel, Kathrin ^a   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

Genetic heterogeneity; Glycogenosis type V; McArdle disease; Mutation; Myopathy; Myophosphorylase

Indexed keywords

ARGININE; GLYCOGEN PHOSPHORYLASE; TRYPTOPHAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; EXON; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; STOP CODON;

ADULT; CODON, NONSENSE; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0037233672     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10261     Document Type: Article

References (9)

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