Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency

Journal of Neural Transmission

Volumn 114, Issue 5, 2007, Pages 563-569

  Buss, C ^a   Schuelter, U ^a   Hesse, J ^a   Moser, D ^a   Phillips, D I ^b   Hellhammer, D ^a   Meyer, J ^a  

^a UNIVERSITY OF TRIER   (Germany)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

Corticosteroid binding globulin deficiency; Mutation analysis; SERPINA6

Indexed keywords

GENE PRODUCT; HYDROCORTISONE; SERINE PROTEINASE INHIBITOR; SERPIN A6; TETRACOSACTIDE; TRANSCORTIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD PRESSURE; CASE REPORT; CORTICOSTEROID BINDING GLOBULIN DEFICIENCY; DISEASE SEVERITY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOTHALAMUS HYPOPHYSIS SYSTEM; MALE; MUSCLE FATIGUE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DEFECT; PSYCHOBIOLOGY; SALIVA LEVEL; STANDARD; STRESS; VASTUS LATERALIS MUSCLE;

ADULT; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; HYDROCORTISONE; MALE; MUSCLE FATIGUE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; SALIVA; SERPINS;

EID: 34247500352     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-006-0620-5     Document Type: Article

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