Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

Neuromuscular Disorders

Volumn 21, Issue 12, 2011, Pages 817-823

  Vieitez, Irene ^a   Teijeira, Susana ^a   Fernandez, Jose M ^a   San Millan, Beatriz ^a   Miranda, Sara ^a   Ortolano, Saida ^a   Louis, Sarah ^b   Laforet, Pascal ^c   Navarro, Carmen ^a,d  

^a University Hospital of Vigo   (Spain)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Glycogen storage disease type V; McArdle's disease; Mutations; Myophosphorylase; PYGM

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEX DIFFERENCE;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FRANCE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MUTATION; PHENOTYPE; SPAIN;

EID: 82755182858     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.07.002     Document Type: Article

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