A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease

Molecular Genetics and Metabolism

Volumn 85, Issue 3, 2005, Pages 239-242

  Isackson, Paul J ^a   Tarnopolsky, Mark ^b   Vladutiu, Georgirene D ^a  

^a UNIVERSITY AT BUFFALO   (United States)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

Autosomal dominant; Exercise intolerance; McArdle disease; Muscle disease; Mutation; Myophosphorylase

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CAUCASIAN; CODON; DISEASE TRANSMISSION; EXON; FATHER; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MOTHER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM;

ADULT; BASE SEQUENCE; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; GENOTYPE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 20544456343     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.03.002     Document Type: Article

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