Analysis of spectrum and frequencies of mutations in McArdle disease: Identification of 13 novel mutations

Journal of Neurology

Volumn 254, Issue 6, 2007, Pages 797-802

  Deschauer, M ^a   Morgenroth, A ^b   Joshi, P R ^a   Glaser D ^c   Chinnery, P F ^d   Aasly, J ^e   Schreiber, H ^f   Knape, M ^a   Zierz, S ^a   Vorgerd, M ^b  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c Centre for Human Genetics   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^f UNIVERSITY OF ULM   (Germany)

Author keywords

Genetic testing; McArdle disease; Mutations; Myophosphorylase deficiency

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GERMANY; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUTATION RATE; PRIORITY JOURNAL; SCHOOL CHILD; UNITED KINGDOM;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; COHORT STUDIES; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 34347366257     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0447-x     Document Type: Article

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