Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype-phenotype correlation

Neuromuscular Disorders

Volumn 17, Issue 3, 2007, Pages 235-241

  Aquaron, Robert ^a   Bergé Lefranc, Jean louis ^b   Pellissier, Jean Francois ^a   Montfort, Marie France ^c   Mayan, Michèle ^c   Figarella Branger, Dominique ^a   Coquet, Michelle ^d   Serratrice, Georges ^c   Pouget, Jean ^c  

^a AIX MARSEILLE UNIVERSITY   (France)

^b HÔPITAL DE LA CONCEPTION   (France)

^c TIMONE HOSPITAL   (France)

^d HÔPITAL PELLEGRIN   (France)

Author keywords

Hyper CKemia; Malignant hyperthermia susceptibility; McArdle disease; Myophosphorylase gene; Southern France

Indexed keywords

ANTILIPEMIC AGENT; CREATINE KINASE; GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DISEASE PREDISPOSITION; ENZYME DEFICIENCY; FEMALE; FRANCE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 5; HISTOCHEMISTRY; HUMAN; HYPERCHOLESTEROLEMIA; MALE; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIDE EFFECT;

ADOLESCENT; ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENETIC HETEROGENEITY; GENOTYPE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 33947286132     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.12.014     Document Type: Article

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