Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 587-591

  Wu, Y ^a,b   Weber, J L ^c   Vladutiu, G D ^d   Tarnopolsky, M A ^a  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c Prevention Genetics   (United States)

^d UNIVERSITY AT BUFFALO   (United States)

Author keywords

Glycogen storage disease type 5; Muscle; Mutation; Myophosphorylase; Pseudo dominant; PYGM

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

AMINO ACID ANALYSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CAUCASIAN; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETAL MUSCLE; VASTUS LATERALIS MUSCLE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; COMPUTER SIMULATION; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; YOUNG ADULT;

EID: 82255162816     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.012     Document Type: Article

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