Disease: Congenital fiber type disproportion
- A brief history of the congenital myopathies - the myopathological perspective
- A case report of central core disease with repeated foaming at the mouth as the initial symptom
- A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
- A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease
- A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System
- A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin
- A Novel Variant in <em>TPM3</em> Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
- A Possible Case of Centronuclear Myopathy: A Case Report
- A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del)
- A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
- Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy
- An unusual way to improve lung function in congenital myopathies: the power of singing
- Anaesthetic management of caesarean section in a patient with myofibrillar myopathy
- Anesthetic management for surgery in a nemaline myopathy patient with difficult airway: A CARE-compliant case report
- Arrhythmias in patients with X-linked myotubular myopathy
- Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
- Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy
- Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene
- Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene
- Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
- Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
- Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study
- Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy
- Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy
- Congenital myopathies
- Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
- Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology
- Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
- Dynamics of membrane tubulation coupled with fission by a two-component module
- Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial
- Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi004-A) from a patient with Congenital Nemaline Myopathy
- Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations
- Extremely thinning ribs in severe congenital myopathy
- Filamin C-Associated Nemaline Myopathy
- Gene therapy for X-linked myotubular myopathy: the challenges
- Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene
- Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
- Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
- Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
- Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
- High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
- HIV-associated nemaline myopathy manifesting as bent spine syndrome
- HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
- Human Mutated <em>MYOT</em> and <em>CRYAB</em> Genes Cause a Myopathic Phenotype in Zebrafish
- Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review
- Inspiratory Muscle Training in Nemaline Myopathy
- Interplay between myotubularins and Ca<sup>2+</sup> homeostasis
- KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
- L-tyrosine for treatment of an infant with nemaline rod myopathy
- Late-onset sporadic nemaline myopathy presenting as hypercapnic respiratory failure
- Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
- Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy
- Mechanism study of tyrosine phosphatase shp-1 in inhibiting hepatocellular carcinoma progression by regulating the SHP2/GM-CSF pathway in TAMs
- Microtubular network and functionality of the striated skeletal muscle
- Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy
- MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy
- Muscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission
- Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning
- Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
- Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene
- Myofibrillar myopathy hallmarks associated with ZAK deficiency
- Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin gammabeta-heterodimer
- Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer
- Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
- Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review
- New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
- Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
- Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems
- Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects
- Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
- Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay
- One transgene, two myopathies: an MTM1 'cross gene therapy' for BIN1 deficiency?
- ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome
- Orthognathic surgery in RYR1-related congenital myopathy: a patient report
- Peripheral thickening of the sarcomeres and pointed end elongation of the thin filaments are both promoted by SALS and its formin interaction partners
- Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force
- PI3KC2β: A promising therapeutic target in myotubular myopathy
- Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool
- Proximal myopathy: causes and associated conditions
- Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States
- Respiratory features of centronuclear myopathy in the Netherlands
- RYR1 myopathies in childhood: phenotype-genotype correlation and incidence
- Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
- Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
- Shaping transverse-tubules: central mechanisms that play a role in the cytosol zoning for muscle contraction
- Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
- Sporadic Late-Onset Nemaline Myopathy: Current Landscape
- The dynamin-2-gene related centronuclear myopathy
- The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
- The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis
- The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research
- The PI3KC2β kinase as a therapeutic target for myotubular myopathy
- Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
- Tubular aggregate myopathy causing progressive fatiguable weakness
- Tubular aggregate myopathy mutant unveils novel activation and inactivation mechanisms of Orai1
- Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy
- Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
- Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin
- Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review
- X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the <em>MTM1</em> Gene