Disease: Myotilinopathy
- Acupuncture at Sanjian (LI 3) for perimyotenositis of extensor of radial aspect
- Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations
- Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
- Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
- Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains
- Congenital myopathies in the new millennium
- Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies
- Diagnostic impact of myotonic discharges in myofibrillar myopathies
- Different early pathogenesis in myotilinopathy compared to primary desminopathy
- Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
- Distinct muscle imaging patterns in myofibrillar myopathies
- Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
- Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies
- Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
- Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy
- Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
- In vivo characterization of mutant myotilins
- Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol
- Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the <em>MYOT</em> Variant c.179C>T
- Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T
- Mutations in myotilin cause myofibrillar myopathy
- Myofibrillar and distal myopathies
- Myofibrillar Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Myotilinopathy in a family with late onset myopathy
- Myotilinopathy unmasked by statin treatment: A case report
- Myotilinopathy: refining the clinical and myopathological phenotype
- New aspects of myofibrillar myopathies
- New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses
- Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation
- Protein aggregation in congenital myopathies
- Significance of Asymptomatic Hyper Creatine-Kinase Emia
- TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies
- Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy
- Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function