DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation.

Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study.

Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies.

A Novel Dysferlin-Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy.

SORT LNPs encapsulating Cas9 mRNA achieve efficient editing in skeletal muscle in a dystrophic mouse model.

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

What Is in the Myopathy Literature?

Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy.

Inflammation at the core: rethinking pathology in limb-girdle muscular dystrophy R3.

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.

Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability.

CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.

Clinical and Genetic Analysis of Limb-Girdle Muscular Dystrophy Type 2F with A Novel SGCD Mutation: A Case Report.

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations.

SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.

DYSF gene variant spectrum in Arab populations across eight countries: A systematic review.

Acute Liver Failure With Transient Liver Steatosis Following Multiple Hits Postoperatively in a Patient With Limb-Girdle Muscular Dystrophy: A Case Report.

The Impact of Glycosylation on the Conformational Ensembles of β-, δ-, and γ Sarcoglycans.

[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.

Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents.

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.

Perinatal management of a pregnant patient with limb-girdle muscular dystrophy R1 calpain3-related.

Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy.

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report.

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

A Case of Anti-MuSK Antibody-positive Myasthenia Gravis Presenting as Limb-Girdle Muscle Atrophy.

Tissue-Selective Effects of PLEC Isoform Deficiency: Insights From A Muscle Only Phenotype.

Deciphering the role of AP-1 transcription factor in cardiac involvement and inflammation of limb-girdle muscular dystrophy 2A.

Repairing the defective folding of alpha-sarcoglycan is needed to promote myogenic cell engraftment in 3D artificial muscle models of LGMDR3.

Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.

Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report.

Antisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy.

Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy.

HMGCR-related muscular dystrophy: a case of severe neonatal-onset form.

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.

Trigger-Free Neuraxial Anaesthesia for Emergency Evacuation of Retained Products of Conception in Limb-Girdle Muscular Dystrophy: A Case Report and Literature Review.

Novel insights into the molecular mechanisms of LGMDD2: role of TNPO3 in experimental cell and zebrafish models.

Mutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy.

The herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.

Dysferlin and the Regulation of Ca2+ Release in Skeletal Muscle.

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation.

Pharmacokinetic and Pharmacodynamic Evaluation of Bidridistrogene Xeboparvovec in an Aged Murine Model of Limb-Girdle Muscular Dystrophy Type 2E/R4.

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.

Boldo Restores Vascularization and Reduces Skeletal Muscle Inflammation in Symptomatic Mice with Dysferlinopathy.

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases.

Automated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations.

Myopathies: Radiologist's Essential Tips for Clinical, Pathologic, and Imaging Findings.

Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies.

MyomiRs Expression in Limb Girdle Muscular Dystrophy.

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B.

Limb-Girdle Muscular Dystrophies.

Impaired myogenesis in limb girdle muscular dystrophy type 2B.

Intramuscular and Intravenous AAV-Mediated Gene Delivery in Mouse Models.

In Vivo Electroporation of Plasmid DNA into the Skeletal Muscle of Dystrophic Mouse Models.

Manual Immunofluorescence Staining for Dystrophin and Key Dystrophin-Associated Proteins.

An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India.

Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.

282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands.

Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy: Large Language Models and International Classification of Diseases Codes.

Diamond Sign in Calpainopathy.

Cardiac MRI for early detection of subclinical cardiac dysfunction in dysferlinopathy.

Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy.

Evaluation of nutritional status and swallowing functions of children with neuromuscular disordes.

[Pathomorphological characteristics of inflammatory and hereditary myopathies].

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population.

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily.

Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives.

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants.

Limb-girdle muscular dystrophy D3: The first North American family and review of the literature.

Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy and left ventricular ejection fraction of 27%: a case report.

Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study.

Limb girdle muscular dystrophies: striving to bridge a diagnostic gap.

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G.

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study.

Ribitol treatment rescues dystroglycanopathy mice with common L276I mutation.

The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.

Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

Screening for Cardiac Involvement and Early Initiation of Therapies in Limb-Girdle Muscular Dystrophy R9.

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy.

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy.

The "greta oto" sign for diagnosing axial myopathy with low back pain as the major clinical manifestation: a novel MRI sign with report of four cases.

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family.

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.

Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3.

Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.

Mutations in Hsp40 co-chaperone change the unique canonical inter-domain interactions stimulating LGMDD1 myopathy.

Distinct systemic metabolic features in limb-girdle muscular dystrophy type R1 mouse models as a potential early pathogenic signature.

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?

Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report.

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.

HeartMate 3 Left Ventricular Assist Device Implantation in a Pediatric Patient With Limb-Girdle Muscular Dystrophy.

Left ventricular systolic dysfunction screening in muscular dystrophies using deep learning-based electrocardiogram interpretation.

Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene.

Segmental Strain and Strain-Rate Imaging to Assess Cardiac Function in Patients With Limb-Girdle Muscular Dystrophy R9: An Observational Study of the Norwegian LGMDR9 Cohort.

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.

Tele-assessment in limb-girdle muscular dystrophy: feasibility and reliability of patient-led asynchronous method.

Recent insights into limb-girdle muscular dystrophy: Impacts, therapy, and challenges.

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.

Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness.

A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy.

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis.

Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM).

Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9.

In situ detection of activation of CAPN3, a responsible gene product for LGMDR1, in mouse skeletal myotubes.

[Autosomal recessive limb-girdle muscular dystrophy-10. Case report].

Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case report.

Loss of popdc3 Impairs Mitochondrial Function and Causes Skeletal Muscle Atrophy and Reduced Swimming Ability in Zebrafish.

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Borzoi decodes the complex DNA signals governing gene regulation.

Muscle-specific Ryanodine receptor 1 properties underlie limb-girdle muscular dystrophy 2B/R2 progression.

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.

Sarcoglycanopathies: From clinical diagnosis to new promising therapies.

Universal Proteomic Signature After Exercise-Induced Muscle Injury in Muscular Dystrophies.

High-throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin-deficient limb girdle muscular dystrophy.

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.

Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait.

Limb-Girdle Muscular Dystrophy Type 2 Caused by a Novel Homozygous Mutation in DYSF in a Consanguineous Family.

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Physical training of wheelchair users with neuromuscular disorders: A systematic review.

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.

Metabolic dysregulation contributes to the development of dysferlinopathy.

The TRIM32 geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy.

Asymptomatic and oligosymptomatic states of dysferlinopathy.

A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

Antisense oligonucleotide-mediated exon 27 skipping restores dysferlin function in dysferlinopathy patient-derived muscle cells.

[Ultrastructural changes of skeletal muscle tissue of patients with dysferlinopathy].

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

Analysis of Exon Skipping Applicability for Dysferlinopathies.

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na-MRI in Dysferlinopathy and Healthy Controls.

Transcriptome analysis of muscle atrophy in Leizhou black goats: identification of key genes and insights into limb-girdle muscular dystrophy.

Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Safety and Efficacy of Autologous Bone Marrow Derived Mononuclear Cell Transplant in the Management of Various Neurological Disorders.

Chronic pain as a presenting feature of dysferlinopathy.

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.

Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy.

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.

Case report: A single novel calpain 3 gene variant associated with mild myopathy.

Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy.

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.

Natural history of skeletal muscle laminopathies: a 2-year prospective study.

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene.

SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy.

Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review.

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review.

Muscle MRI in a Rare Case of Limb-Girdle Muscular Dystrophy 1B.

Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy.

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.

Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.

TRIM32 inhibits Venezuelan equine encephalitis virus infection by targeting a late step in viral entry.

Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophy.

Cryo-EM structures of the membrane repair protein dysferlin.

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies.

Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.

AAV-based TCAP delivery rescues mitochondria dislocation in limb-girdle muscular dystrophy R7.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9.

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.

Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families.

Anesthetic Challenges of a Patient With Limb-Girdle Muscular Dystrophy in a Patient With Colon Cancer.

Clinical Presentation, Diagnosis, and Genetic Insights of Miyoshi Myopathy: A Case Report and Literature Review.