Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.

Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report.

Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Genetic and Clinical Characterization of FLNC Variants in Chinese Patients with Cardiomyopathy.

Case Report: Simultaneous presentation of end-stage heart failure with cardiogenic shock requiring emergency transplantation in monozygotic twins with myofibrillar myopathy: a previously unknown genetic disease?

Novel muscle MRI features in Desmin related myasthenic myopathy.

BAG3-related myofibrillar myopathy: focus on its cardiac involvement.

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes.

R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy.

[A family with nonsynonymous mutations of filamin C actin-binding domain].

Adult-onset desmin myopathy in a patient with multiple sclerosis.

Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.

Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.

Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.

Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy.

Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features.

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier.

Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy.

Evaluation of aggrephagy markers in myofibrillar myopathies.

Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6.

Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6.

Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5.

The Spectrum of Small Heat Shock Protein B8 (HSPB8)-Associated Neuromuscular Disorders.

Structural characterization and functional analysis of human αB-crystallin with the p.R11G mutation: Insights into cataractogenesis and cardiomyopathy.

Mutational and clinical spectrum of myofibrillar myopathy in one center from China.

Myotilin gene duplication causing late-onset myotilinopathy.

Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6.

Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6.

Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.

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.

Common and Key Differential Pathogenic Pathways in Desminopathy and Titinopathy.

Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.

A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.

Characterisation of phenotypic patterns in equine exercise-associated myopathies.

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.

Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene.

Personalized allele-specific CRISPR-Cas9 strategies for myofibrillar myopathy 6.

Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.

A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of "hypertrophic cardiomyopathy".

HspB5 Chaperone Structure and Activity Are Modulated by Chemical-Scale Interactions in the ACD Dimer Interface.

Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene.

Anaesthetic management of caesarean section in a patient with myofibrillar myopathy.

[A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy].

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy.

A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Myofibrillar myopathy hallmarks associated with ZAK deficiency.

Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson's Disease.

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.

Myofibrillar myopathy presenting with an inclusion body myositis-like phenotype.

Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene.

Phenotypic variability within the desminopathies: A case series of three patients.

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.

High parasternal intercostal muscle thickening associated with diaphragm dysfunction in myofibrillar myopathy: A case study.

Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy.

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Transcriptome analysis from muscle biopsy tissues in late-onset myopathies identifies potential biomarkers correlating to muscle pathology.

Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.

Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report.

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report.

BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy.

Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors.

Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases.

Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Immune-mediated necrotizing myopathy: Unusual presentations of a treatable disease.

Filamin C in cardiomyopathy: from physiological roles to DNA variants.

FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.

Integrated proteomic and transcriptomic profiling identifies aberrant gene and protein expression in the sarcomere, mitochondrial complex I, and the extracellular matrix in Warmblood horses with myofibrillar myopathy.

A Window Into the Myofibrillar Myopathy Proteome.

c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation.

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.

Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy.

Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI.

Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Panorama of the distal myopathies.

Polymyositis: is there anything left? A retrospective diagnostic review from a tertiary myositis centre.

Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein.

GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.

Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?

Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency.

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Metformin rescues muscle function in BAG3 myofibrillar myopathy models.

Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis.

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.

A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.

A novel homozygous KY variant causing a complex neurological disorder.

Myofibrillar Myopathy Mimicking Polyneuropathy.

Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy.

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.

Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.

BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.

Differential diagnosis of vacuolar myopathies in the NGS era.

A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

Myopathies presenting with head drop: Clinical spectrum and treatment outcomes.

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family.

BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy.

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.

FHL1-mutated reducing body myopathy.

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

Autophagy Defects in Skeletal Myopathies.

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.

Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies.

Novel TRIM32 mutation in sarcotubular myopathy.

A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.

Motor unit potential changes in myofibrillar myopathy.

Expanding the central nervous system disease spectrum associated with FLNC mutation.

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Expanding the phenotype of filamin-C-related myofibrillar myopathy.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways.

Myofibrillar myopathy in the genomic context.

The unfolding spectrum of inherited distal myopathies.

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

BAG3 myopathy is not always associated with cardiomyopathy.

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.

Muscle Conditions Affecting Sport Horses.

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Expanding the histopathological spectrum of CFL2-related myopathies.

The desmin network is a determinant of the cytoplasmic stiffness of myoblasts.

Untangling the complexity of limb-girdle muscular dystrophies.

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.

Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association.

Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity.

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

Letter to Editor: Functional study is not the only criterion to predict the pathogenicity of a novel mutation for cardiomyopathy.

Clinical and histopathological features of myofibrillar myopathy in Warmblood horses.

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.

Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis.

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.

Hereditary myopathies with early respiratory insufficiency in adults.

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.

Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.

FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Myofibrillar and distal myopathies.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Mitochondrial dysfunction in myofibrillar myopathy.

A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.

Distal Myopathies: Case Studies.

Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

New aspects of myofibrillar myopathies.

Proteomic profiling of muscle fibre type shifting in neuromuscular diseases.

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.

NFκB is a central regulator of protein quality control in response to protein aggregation stresses via autophagy modulation.