Disease: Distal myopathy Markesbery-Griggs type
- A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
- A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
- A Laing distal myopathy-associated proline substitution in the beta-myosin rod perturbs myosin cross-bridging activity
- A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
- A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
- A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases
- A Novel Variant in <em>TPM3</em> Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
- A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
- A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
- A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions
- AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes
- ALS mutations in the TIA-1 prion-like domain trigger highly condensed pathogenic structures
- Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy
- An Unusual Presentation of Juvenile Polymyositis in an Adolescent Girl
- Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent
- Anti-synthetase Syndrome: A Diagnostic Dilemma
- Antineutrophil cytoplasmic antibody-associated vasculitis with predominant truncal muscle weakness: a retrospective case series
- Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy
- Autophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3
- Axial involvement as a prominent feature in SMPX-related distal myopathy
- Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course
- Bi-Allelic <em>DES</em> Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
- Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
- Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies
- C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
- Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <em>ADSSL1</em> Missense Variant
- Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
- Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
- Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
- Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
- Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting
- Collagen VI in the Musculoskeletal System
- Current advance on distal myopathy genetics
- Defining the landscape of TIA1 and SQSTM1 digenic myopathy
- DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy
- DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy
- Distal myopathy
- Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
- Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4
- Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family
- Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy
- Dysferlinopathies: Clinical and genetic variability
- Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile
- Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
- Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles
- Electrodiagnostic Evaluation of Myopathy
- Electrodiagnostic Evaluation of Myopathy
- Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review
- Evaluation of <em>N</em>-Acetylmannosamine Administration to Restore Sialylation in <em>GNE</em>-Deficient Human Embryonal Kidney Cells
- Expanded clinical spectrum of oculopharyngodistal myopathy type 1
- Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant
- Genetic and Clinical Spectrum of GNE Myopathy in Russia
- GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation
- GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
- Growth deficiency and enhanced basal immunity in Arabidopsis thaliana mutants of EDM2, EDM3 and IBM2 are genetically interlinked
- Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
- Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy
- Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with <em>ANO5</em>-Related Distal Myopathy
- Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy
- Inclusion-body myositis associated with Sjögren's disease: clinical characteristics and comparison with other Sjögren-associated myositis
- Inherited myopathy plus: Double-trouble from rare neuromuscular disorders
- Lack of therapeutic response: Is it really a rheumatoid Arthritis?
- Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan
- Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy
- Long-term monitoring of stimulated lower leg skeletal muscle forces compared with voluntary contractions in myopathy patients - A five-year follow-up report on 5 adults
- Microscopic and Biochemical Hallmarks of <em>BICD2</em>-Associated Muscle Pathology toward the Evaluation of Novel Variants
- Miyoshi Muscular Dystrophy Type 1 with Mutated <em>DYSF</em> Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review
- Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review
- Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
- Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay
- Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
- Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
- Mutation update for the ACTN2 gene
- Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene
- Myofibrillar myopathy presenting with an inclusion body myositis-like phenotype
- Myositis with prominent B cell aggregates may meet classification criteria for sporadic inclusion body myositis
- Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects
- Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial
- Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan
- Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein
- Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy
- Progress in muscle research through the international congress of neuromuscular diseases (ICNMD): a narrative review
- Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
- Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia
- Quantitative whole-body muscle MRI in idiopathic inflammatory myopathies including polymyositis with mitochondrial pathology: indications for a disease spectrum
- Rare <em>ACTN2</em> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
- Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
- Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
- Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
- The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
- The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis
- Titin copy number variations associated with dominant inherited phenotypes
- Treatment responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy (MGAM)
- Treatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy
- Understanding pathophysiology of GNE myopathy and current progress towards drug development
- Variants in <em>ACTC1</em> underlie distal arthrogryposis accompanied by congenital heart defects
- Variants in <em>ACTC1</em> underlie distal arthrogryposis accompanied by congenital heart defects
- Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
- Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
- Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia