To everyone involved in muscular dystrophy
Myopathies caused by the same Dysferlin gene mutation have different names
depending on the clinical pathology (proximal muscle predominance / distal
muscle predominance).
Proximal muscle dominance
Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance
Miyoshi muscular dystrophy(MMD)
Distal myopathy with anterior tibial onset (DMAT)
Distal anterior compartment myopathy(DACM)
Our disease is categorized by clinical pathology (proximal muscle predominance
/ distal muscle predominance), and we are faced with the following problems.
1. I don't know that it's a muscle disease that develops with the same
causative gene
2. Not knowing that they can be treated together
3. There are cases in which even related Brothers and sisters have different
disease names
*If the medical institution is different
4. There are cases that cannot be subjects of clinical Study or clinical
trial
*Including blood related siblings
5. Difficulty in smoothly recruiting subjects for clinical Study and clinical
trial
6. There are cases that cannot be targeted for treatment
7. Difficult to determine exact number of patients
Our disease is a rare disease with very few patients. Therefore, we believe
it is important for patients to work together to Certification Dysferlinopathy
as a unified disease name for muscle diseases caused by mutations in the
Dysferlin gene. We hope that each country will establish an organization
specializing in Dysferlinopathy.
1. Awareness raising of medical information about dysferlinopathy
2. Promoting genetic testing for dysferlinopathy
3. Construction of patient registration system for dysferlinopathy
4. Authorize dysferlinopathy on an ICD-10 diagnosis cord
*International Classification of Diseases (ICD)
5. Authorize dysferlinopathy as a disease covered by the medical expenses
insurance system (health insurance)
Our disease has been studied for many years in many countries.
We too must walk the path to healing.
Reference / This isn't everything
France / UK / Mexican / Chile / Germany / China / USA / Korea / Japan /
Canada / Italy / Slovenia
Spain / India
AUTOSOMAL RECESSIVE DISTAL MUSCULAR DYSTROPHY AS A NEW TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY: SEVENTEEN CASES IN EIGHT FAMILIES INCLUDING AN AUTOPSIED CASE
1996 United Kingdom
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
1998 United Kingdom
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
1998 USA
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
1999 USA
Dysferlin is a surface membrane–associated protein that is absent in Miyoshi myopathy
2001 USA
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
2001 Spain
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
2002 France
Dysferlinopathy. Example of a new myopathy
2002 Italy
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
2003 Japan
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients
2003 USA
Defective membrane repair in dysferlin-deficient muscular dystrophy
2003 Italy
Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study
2004 UK
Characterisation of the dysferlin skeletal muscle promote
2004 Japan
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
2004 Japan
Dysferlinopathy
2004 India
A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy
2005 France
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies
2005 Germany
The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex
2005 Spain
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population
2005 Japan
Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)
2005 Japan
Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and limb girdle muscular dystrophy type 2B)
2005 Italy
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
2006 Japan
A case of dysferlinopathy presenting choreic movements
2006 Italy
Proteomic investigation of the molecular pathophysiology of dysferlinopathy
2006 Spain
Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro"
2006 India
Calf-head sign in Miyoshi myopathy2006 China
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy
2007 Mexican
Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family
2007 China
Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases
2007 France
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
2007 Spain
Dysferlin expression in monocytes: a source of mRNA for mutation analysis
2007 USA
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect
2007 USA
Dysferlin and muscle membrane repair
2007 Japan
Distal anterior compartment myopathy with early ankle contractures
2008 UK
Late onset in dysferlinopathy widens the clinical spectrum
2008 France
Dysferlinopathies
2008 USA
Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo
2008 Italy
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
2008 Indian
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features
2009 Thailand
Novel DYSF mutations in Thai patients with distal myopathy
2009 Chile
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases
2009 UK
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
2009 Thailand
Novel DYSF mutations in Thai patients with distal myopathy
2009 Chile
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases
2009 Germany
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study
2009 Korea
Differential immunohistological features of inflammatory myopathies and dysferlinopathy
2009 India
Invited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy
2010 UK
New aspects on patients affected by dysferlin deficient muscular dystrophy
2010 USA
Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice
2010 USA
Diaphragm displays early and progressive functional deficits in dysferlin-deficient mice
2010 USA
Novel diagnostic features of dysferlinopathie
2010 Italy
Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy
2010 Italy
Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy
2010 Italy
Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease
2011 USA
Dysferlinopathies
2011 Spain
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy
2011 Japan
Comparative Gene Expression Analysis in the Skeletal Muscles of Dysferlin-deficient SJL/J and A/J Mice
2011 Canada
Proteomic identification of dysferlin-interacting protein complexes in human vascular endothelium
2011 Italy
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
2011 Italy
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis
2011 Slovenia
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele
2011 Spain
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy
2011 India
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue
2012 Spain
1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial
2012 Germany
In vivo imaging of molecular interactions at damaged sarcolemma
2012 USA
Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy
2012 South Korea
Heterogeneous characteristics of Korean patients with dysferlinopathy
2012 South Korea
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy
2012 Italy
Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model
2013 Spain
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle
2013 Netherlands / Spain
Dysferlin regulates cell adhesion in human monocytes
2013 Spain
Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement
2013 Germany
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
2013 China
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy
2013 USA
The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands
2013 USA
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure
2013 Japan
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
2013 Canada
Erratum to Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis
2013 Canada
Antisense therapy in neurology
2013 Italy
Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells
2014 Spain
Genetic and epigenetic determinants of low dysferlin expression in monocytes
2014 Australia / Germany
Lipid accumulation in dysferlin-deficient muscles
2014 China
Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note
2014 USA
Genetic silencing of Nrf2 enhances X-ROS in dysferlin-deficient muscle
2014 USA / France / UK
Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion
2014 Canada
New developments in exon skipping and splice modulation therapies for neuromuscular diseases
2014 India
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy
2015 Australia / Germany
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
2015 China
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy
2015 USA / France
A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence
2015 USA
Upregulated IL-1β in dysferlin-deficient muscle attenuates regeneration by blunting the response to pro-inflammatory macrophages
2015 Switzerland / USA
Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam)
2015 USA
Genome-wide expression analysis comparing hypertrophic changes in normal and dysferlinopathy mice
2015 Republic of Korea
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
2015 Japan
The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiae
2015 Japan
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing
2015 Japan
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
2016 Chile / France
Toward an objective measure of functional disability in dysferlinopathy
2016 Chile / France
Toward an objective measure of functional disability in dysferlinopathy
2016 Chile
Broadening the imaging phenotype of dysferlinopathy at different disease stages
2016 Chile
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies
2016 Mexican
Dysferlin quantification in monocytes for rapid screening for dysferlinopathies
2016 Mexican
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing
2016 Germany / US
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair
2016 UK
Dysferlin mutations and mitochondrial dysfunction
2016 China
Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy
2016 China
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle
2016 China
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy
2016 USA
Thrombospondin-1 levels correlate with macrophage activity and disease progression in dysferlin deficient mice
2016 Italy
Progress and challenges in diagnosis of dysferlinopathy
2017 Germany
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy
2017 USA / France / UK
Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle
2017 USA / Canada
Thrombospondin-1 and disease progression in dysferlinopathy
2018 Spain
Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases
2018 Germany
Exon Skipping in a Dysf-Missense Mutant Mouse Model
2019 Chile / France / Spain
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
2018 China
A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy
2018 China
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy
2018 Japan / Canada
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy
2018 Canada
Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B
2018 Japan / Canada
Cell Membrane Repair Assay Using a Two-photon Laser Microscope
2018 Canada
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases
2018 Canada
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy
2019 France / Spain / Canada
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
2019 Chile
Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains
2019 UK
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film
2019 Japan
Identification of 2,6-Disubstituted 3 H-Imidazo[4,5- b]pyridines as Therapeutic Agents for Dysferlinopathies through Phenotypic Screening on Patient-Derived Induced Pluripotent Stem Cells
2019 Japan
Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells
2019 Canada
Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies
2020 Germany
Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system
2020 Chile
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation
2020 Netherlands / Germany / France
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells
2020 Spain
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes
2020 Germany
Functions of Vertebrate Ferlins
2020 China
The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy
2020 Republic of Korea
Proteomic analysis of the skeletal muscles from dysferlinopathy patients
2020 Japan
Radiological findings in siblings with dysferlin mutation with diverse phenotype
2020 Japan
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy
2020 India
Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle
2021 France
The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
2021 France
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
2021 France
Deep phenotyping of an international series of patients with late-onset dysferlinopathy
2021 USA
Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B
2021 countries
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
2021 Japan / USA
4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations
2021 Spain / United Kingdom
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
2021 China
Erratum: Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy: Erratum
2021 China
Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses
2021 China
Analysis of genetic variants in five pedigrees affected with Dysferlinopathy 2021 China
Dysferlinopathy in a cohort of Chinese patients: clinical features, mutation spectrum, and imaging findings
2021 China
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
2021 South Korea
Null variants in DYSF result in earlier symptom onset
2021 Canada
Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions
2022 Tunisia / France
Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity
2022 USA
Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene
2022 Chile
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
2022 Chile
N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mic
2022 Australia / Italy / UK
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
2022 China
The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
2022 China
Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation
2022 USA
Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene
2022 USA
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies
2022 Italy
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
2022 Italy
Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice
2023 France / USA
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
2023 Tunisia
Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile
2023 USA
Relative quantification of progressive changes in healthy and dysferlin-deficient mouse skeletal muscle proteomes
2023 China
A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
2023 Republic of Korea
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review
2023 Republic of Korea
Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach
2023 Canada
Safety concerns surrounding AAV and CRISPR therapies in neuromuscular treatment
2023 Canada
Assessing the Role of Aquaporin 4 in Skeletal Muscle Function
2023 Canada
Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
2023 Canada
Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay
2023 India
Beevor's Sign in Limb Girdle Dysferlinopathy Due to a Novel Mutation
2024 UK / Spain
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
2024 Canada
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments