A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

Neuromuscular Disorders

Volumn 10, Issue 6, 2000, Pages 447-449

  Martín, Miguel A ^a   Rubio, Juan C ^a   Campos, Y ^a   Ricoy, J R ^a   Cabello, A ^a   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Exercise intolerance; McArdle's disease; Myophosphorylase; Myophosphorylase gene

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; CASE REPORT; EXERCISE; GENE MUTATION; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; BINDING SITES; BIOPSY; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE V; HOMOZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION, MISSENSE; PHOSPHORYLASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPAIN;

EID: 0034255914     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00124-8     Document Type: Article

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