Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Alleles
Biomarkers
Blood Platelet Disorders
/ diagnosis
Calcium
/ metabolism
Disease Management
Dyslexia
/ diagnosis
Erythrocytes, Abnormal
Gain of Function Mutation
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Genotype
Humans
Ichthyosis
/ diagnosis
Migraine Disorders
/ diagnosis
Miosis
/ diagnosis
Muscle Fatigue
/ genetics
Mutation
Myopathies, Structural, Congenital
/ diagnosis
Neoplasm Proteins
/ genetics
ORAI1 Protein
/ genetics
Phenotype
Protein Binding
Protein Interaction Domains and Motifs
Spleen
/ abnormalities
Stromal Interaction Molecule 1
/ genetics
ORAI1
STIM1
Stormorken syndrome
store-operated calcium entry
tubular aggregate myopathy
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
09
05
2019
revised:
29
07
2019
accepted:
21
08
2019
pubmed:
27
8
2019
medline:
20
5
2021
entrez:
27
8
2019
Statut:
ppublish
Résumé
Calcium (Ca
Substances chimiques
Biomarkers
0
Neoplasm Proteins
0
ORAI1 Protein
0
STIM1 protein, human
0
Stromal Interaction Molecule 1
0
Calcium
SY7Q814VUP
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
17-37Informations de copyright
© 2019 Wiley Periodicals, Inc.