Novel mutation in the PYGM gene resulting in McArdle disease

Archives of Neurology

Volumn 63, Issue 12, 2006, Pages 1782-1784

  Rubio, Juan C ^a   Lucia, Alejandro ^b   Fernández Cadenas, Israel ^c   Cabello, Ana ^a   Blázquez, Alberto ^a   Gámez, Josep ^c   Andreu, Antoni L ^c   Martín, Miguel A ^a   Arenas, Joaquin ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b UNIVERSIDAD EUROPEA DE MADRID   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE;

ADULT; ARTICLE; BICYCLE ERGOMETRY; CASE REPORT; CONTROLLED STUDY; EXERCISE TOLERANCE; FEMALE; GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; OXYGEN CONSUMPTION; PHYSICAL CAPACITY; PHYSICAL PERFORMANCE; PRIORITY JOURNAL; PYGM GENE; UNIVERSITY HOSPITAL;

ADULT; ANAEROBIC THRESHOLD; ELECTROCARDIOGRAPHY; EXERCISE TEST; EXERCISE TOLERANCE; FEMALE; GLYCOGEN PHOSPHORYLASE; GLYCOGEN STORAGE DISEASE TYPE V; HEART RATE; HUMANS; MUTATION; OXYGEN CONSUMPTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 33845547654     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.12.1782     Document Type: Article

References (10)

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