Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

Muscle and Nerve

Volumn 28, Issue 3, 2003, Pages 380-382

  Gámez, Josep ^a   Rubio, Juan C ^b   Martín, Miguel A ^b   Fernández Cadenas, Israel ^a   Garcia Arumi, Elena ^a   Andreu, Antoni L ^a   Arenas, Joaquín ^b  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

McArdle's disease; Metabolic myopathy; Muscle glycogen phosphorylase deficiency; Nonsense mutation; Splice junction mutation

Indexed keywords

GLYCOGEN PHOSPHORYLASE; TYROSINE;

ADULT; ARTICLE; CASE REPORT; CONSENSUS SEQUENCE; EXON; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; PEDIGREE; RNA SPLICING; STOP CODON; SYMPTOMATOLOGY;

ADULT; AGED; ALTERNATIVE SPLICING; CHILD; CODON, NONSENSE; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; GLYCOGEN; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; PEDIGREE; RNA SPLICE SITES;

EID: 0042432079     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10418     Document Type: Article

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