Muscle glycogenosis with low phosphorylase kinase activity: Mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

European Journal of Human Genetics

Volumn 11, Issue 7, 2003, Pages 516-526

  Burwinkel, Barbara ^a,f   Hu, Bin ^a   Schroers, Anja ^b   Clemens, Paula R ^c,g   Moses, Shimon W ^d   Shin, Yoon S ^e   Pongratz, Dieter ^e   Vorgerd, Matthias ^b   Kilimann, Manfred W ^a,h  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c MAYO CLINIC   (United States)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f UNIVERSITY OF KIEL   (Germany)

^g UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^h UPPSALA UNIVERSITY   (Sweden)

Author keywords

Exercise intolerance; Gene structure; Glycogen storage disease; Metabolic myopathy; Phosphorylase kinase deficiency; Pseudogene

Indexed keywords

CALCINEURIN; CYCLIC AMP DEPENDENT PROTEIN KINASE; GLYCOGEN PHOSPHORYLASE; ISOENZYME; PHOSPHORYLASE KINASE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC REGULATION; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE; RNA SPLICING;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CALMODULIN; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLES; ORGAN SPECIFICITY; PHOSPHORYLASE KINASE;

EID: 0041308311     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200996     Document Type: Article

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