A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

Neuromuscular Disorders

Volumn 10, Issue 2, 2000, Pages 138-140

  Rubio, Juan C ^a   Martín, Miguel A ^a   Campos, Yolanda ^a   Cabello, Ana ^a   Arenas, Joaquín ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Exercise intolerance; McArdle's disease; Missense mutation; Myophosphorylase

Indexed keywords

AMMONIA; GLYCOGEN PHOSPHORYLASE; LACTIC ACID;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DNA SEQUENCE; ELECTROMYOGRAM; EXERCISE; FEMALE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CRAMP; MYALGIA; NONSENSE MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SIBLING; URINE COLOR;

ADULT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MUTATION, MISSENSE; PHOSPHORYLASES; SPAIN;

EID: 0033963204     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00082-6     Document Type: Article

References (13)

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