Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of neural transmission (Vienna, Austria : 1996) - 1 Jan 2007

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

Abstract excerpt

Corticosteroid-binding globulin (SERPINA6) deficiency is an extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo-/hypertension and muscle fatigue. Here, we present a patient with severe muscle fatigue, normal blood pressure, and abnormal high...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Hydrocortisone

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Saliva

Share to Serpins

Source

Identifiers

PMID: 17245537
DOI: 10.1007/s00702-006-0620-5

Genes

SERPINA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency.PMID 17245537Read ↗

CBG Santiago: a novel CBG mutation.Semantic proximity Read ↗

Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.Semantic proximity Read ↗

High frequency of SERPINA6 polymorphisms that reduce plasma corticosteroid-binding globulin activity in Chinese subjects.Semantic proximity Read ↗

Two different corticosteroid-binding globulin variants that lack cortisol-binding activity in a greek woman.Semantic proximity Read ↗

Novel corticosteroid-binding globulin variant that lacks steroid binding activity.Semantic proximity Read ↗

Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension.Semantic proximity Read ↗

Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred.Semantic proximity Read ↗

Corticosteroid-binding globulin: the clinical significance of altered levels and heritable mutations.Semantic proximity Read ↗

Corticosteroid-binding globulin gene polymorphisms: clinical implications and links to idiopathic chronic fatigue disorders.Semantic proximity Read ↗

Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.Semantic proximity Read ↗

Effect of mutations of the human serpin protein corticosteroid-binding globulin on cortisol-binding, thermal and protease sensitivity.Semantic proximity Read ↗

Naturally occurring mutations of human corticosteroid-binding globulin.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.