Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)

Journal of Clinical Neuroscience

Volumn 18, Issue 8, 2011, Pages 1055-1058

  Miteff, F ^a   Potter, H C ^b   Allen, J ^a   Teoh, H ^a   Roxburgh, R ^a   Hutchinson, D O ^a  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

Arg49Ter allele; Gly204Ser; McArdle; Myoglobinuria; Myophosphorylase; PYGM; Rhabdomyolysis

Indexed keywords

ARGININE; CREATINE KINASE; GLYCINE; GLYCOGEN PHOSPHORYLASE; MYOGLOBIN; PROLINE; SERINE;

ADOLESCENT; ADULT; ALLELE; BIOCHEMISTRY; BLOOD SAMPLING; CELL VACUOLE; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME STRUCTURE; EXERCISE TOLERANCE; FEMALE; GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOGLOBINURIA; NEW ZEALAND; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYGM GENE; REVIEW; SARCOLEMMA;

EID: 79960722205     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2010.12.033     Document Type: Article

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