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

Portrait of Dysferlinopathy: Diagnosis and Development of Therapy

16 Sept 2023

Abstract excerpt

Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca2+ signalling, and the regulation of various molecules. Miyoshi Myopathy type 1 (MMD1) and Limb–Girdle Muscular Dystrophy 2B/R2 (LGMD2B/LGMDR2)...

Read the complete abstract on PubMed

Topics

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

Share to Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research
Share to Nuclear Structure and Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37762951
DOI: 10.3390/jcm12186011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Portrait of Dysferlinopathy: Diagnosis and Development of TherapyPMID 37762951Read ↗

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.Semantic proximity Read ↗

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for TreatmentsSemantic proximity Read ↗

Dysferlin and Animal Models for DysferlinopathySemantic proximity Read ↗

Translational research and therapeutic perspectives in dysferlinopathies.Semantic proximity Read ↗

Dysferlinopathies.Semantic proximity Read ↗

Dysferlinopathies.Semantic proximity Read ↗

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.Semantic proximity Read ↗

Dysferlinopathies: Clinical and genetic variability.Semantic proximity Read ↗

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.Semantic proximity Read ↗

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.Semantic proximity Read ↗

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.Semantic proximity Read ↗

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy.Semantic proximity Read ↗

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