Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency

Muscle and Nerve

Volumn 36, Issue 5, 2007, Pages 679-684

  Svaasand, Eva K ^a   Aasly, Jan ^a,b   Landsem, Veslemøy Malm ^b   Klungland, Helge ^b  

^a TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^b NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

mRNA expression; Myoglobinuria; Myopathy; PGK1; Phosphoglycerate kinase deficiency

Indexed keywords

CYTOSINE; GUANINE; MESSENGER RNA; PHOSPHOGLYCERATE KINASE; THYMINE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EXON; GENE; HEMOLYTIC ANEMIA; HETEROZYGOTE; HUMAN; INHERITANCE; INTRON; MALE; MENTAL DEFICIENCY; MUSCLE STIFFNESS; NUCLEOTIDE SEQUENCE; PGK1 GENE; PHOSPHOGLYCERATE KINASE DEFICIENCY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYMPTOM; X CHROMOSOME LINKED DISORDER;

DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUTATION; PHOSPHOGLYCERATE KINASE; RNA, MESSENGER;

EID: 35448968951     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20859     Document Type: Article

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