Work

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-110273

Authors: Emma Lafabrie, Maja Vrdoljak Pažur, Jocelyn Laporte, Johann Böhm

Institutions: Centre National de la Recherche Scientifique, Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Université de Strasbourg, University Hospital for Infectious Diseases "Dr Fran Mihaljevic"

Language: English

Topic: Ion Channels and Receptors

Subfield: Sensory Systems

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: French Muscular Dystrophy Association, Agence Nationale de la Recherche

Awards: G1558709446, G381665449, Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine, ORAI1 downregulation to treat tubular aggregate myopathy and Stormorken syndrome

OpenAlex ID: W4408778474

FWCI: 2.934

Cites: 21

Cited by: 5

Related to: 10