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

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Journal of medical genetics - 1 Dec 2014

Böhm Johann, Chevessier Frédéric, Koch Catherine, Peche G Arielle, Mora Marina, Morandi Lucia, Pasanisi Barbara, Moroni Isabella, Tasca Giorgio, Fattori Fabiana, Ricci Enzo, Pénisson-Besnier Isabelle, Nadaj-Pakleza Aleksandra, Fardeau Michel, Joshi Pushpa Raj, Deschauer Marcus, Romero Norma Beatriz, Eymard Bruno, Laporte Jocelyn

Abstract excerpt

BACKGROUND: Tubular aggregate myopathies (TAMs) are muscle disorders characterised by abnormal accumulations of densely packed single-walled or double-walled membrane tubules in muscle fibres. Recently, STIM1, encoding a major calcium sensor of the endoplasmic reticulum, was identified as a TAM gene. METHODS: The present study aims to define the clinical, histological and ultrastructural phenotype of tubular...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Calcium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

Share to Neoplasm Proteins

Share to Protein Conformation

Share to Sequence Alignment

Share to Stromal Interaction Molecule 1

Source

Identifiers

PMID: 25326555
DOI: 10.1136/jmedgenet-2014-102623

Genes

STIM1

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

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.PMID 25326555Read ↗

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.Semantic proximity Read ↗

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.Semantic proximity Read ↗

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.Semantic proximity Read ↗

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathySemantic proximity Read ↗

Functional analyses of <i>STIM1</i> mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.Semantic proximity Read ↗

A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.Semantic proximity Read ↗

The TAM-associated STIM1I484R mutation increases ORAI1 channel function due to a reduced STIM1 inactivation break and an absence of microtubule trapping.Semantic proximity Read ↗

A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.Semantic proximity Read ↗

STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.Semantic proximity Read ↗

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.Semantic proximity Read ↗

ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domainSemantic proximity Read ↗

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