Myofibrillar Myopathy

A group of herditary myopathies that may be autosomal dominant or recessive. They are caused by mutations in different genes but are morphologically homogeneous. Morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the MYOFIBRILS, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including DESMIN; ALPHA-B-CRYSTALLIN; DYSTROPHIN; and myotilin (OMIM: 604103). OMIM: 601419

Also Known As:

Networked: 182 relevant articles (0 outcomes, 11 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Nonaka type Distal myopathy
2.	Muscular Diseases (Myopathy)
3.	Distal Myopathies (Distal Muscular Dystrophy)
4.	Cardiomyopathies (Cardiomyopathy)
5.	Inclusion Body Myositis

Experts

1.	Olivé, Montse: 15 articles (03/2013 - 07/2003)
2.	Fürst, Dieter O: 13 articles (06/2021 - 08/2005)
3.	van der Ven, Peter F M: 13 articles (06/2021 - 08/2005)
4.	Vicart, Patrick: 13 articles (10/2019 - 07/2003)
5.	Schröder, Rolf: 12 articles (01/2020 - 09/2002)
6.	Vorgerd, Matthias: 11 articles (06/2021 - 07/2005)
7.	Kley, Rudolf A: 9 articles (12/2015 - 08/2005)
8.	Selcen, Duygu: 9 articles (06/2015 - 12/2003)
9.	Goldfarb, Lev G: 8 articles (03/2013 - 07/2005)
10.	Udd, Bjarne: 6 articles (04/2015 - 03/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Myofibrillar Myopathy:

1.	Proteins (Proteins, Gene)FDA Link 03/01/2009 - "Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study." 03/08/2022 - "Although it is known to interact with proteins associated with myofibrillar myopathy, its unique role in skeletal muscle remains largely unknown. " 12/01/2021 - "Muscle biopsy showed the typical hallmark of myofibrillar myopathy with abnormal cytoplasmic expression of multiple proteins. " 06/11/2021 - "Myofibrillar myopathy in humans causes protein aggregation, degeneration, and weakness of skeletal muscle. " 06/11/2021 - "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."
2.	FilaminsIBA 12/13/2011 - "Linkage studies delineated a 9.76 Mb region on chromosome 7q22.1-q35 containing filamin C (FLNC), a gene previously associated with myofibrillar myopathy. " 10/01/2023 - "Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the filamin C (FLNC)-gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. " 01/01/2020 - "Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation." 08/17/2019 - "A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report." 01/01/2019 - "We report three patients with a rare filamin C myofibrillar myopathy. "
3.	DesminIBA 02/20/2013 - "Our results highlight the heterogeneous pathogenic mechanisms between different desmin mutants and open the way for new advances in the study of myofibrillar myopathies." 02/20/2013 - "In this study we show that AAV-mediated expression of desmin mutants in mouse muscles recapitulate the aggregation features, the decrease in contractile function and the morphological changes observed in patients with myofibrillar myopathy. " 01/01/2022 - "We observed desmin aggregation, focal myofibrillar dissolution, and mitochondrial accumulation in striated muscles, which are common characteristics of myofibrillar myopathy. " 01/01/2022 - "In patient one, muscle biopsy indicated vacuolar myopathic changes and atypical pathological changes of myofibrillar myopathy characterized by desmin deposits, Z-disc disorganization, and electronic dense granulofilamentous aggregation. " 01/20/2019 - "Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. "
4.	Nonsense Codon (Nonsense Mutation)IBA 10/01/2022 - "We report a 65-year-old patient with myofibrillar myopathy caused by a novel heterozygous nonsense mutation in the dimerization domain of FLNC, in whom histopathological features were highlighted by histological and immunohistochemical studies. " 10/01/2022 - "A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy." 01/01/2021 - "To elucidate the mechanism of disease in, and identify therapies for, BAG3 myofibrillar myopathy, we generated two zebrafish models, one conditionally expressing BAG3P209L and one with a nonsense mutation in bag3. " 12/01/2018 - "Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy." 01/01/2013 - "More recently, FLNC mutations were also found in families with a distal myopathy phenotype, caused either by mutations in the actin-binding domain of FLNc that result in increased actin-binding and non-specific myopathic abnormalities without myofibrillar myopathy pathology, or a nonsense mutation in the rod domain that leads to RNA instability, haploinsufficiency with decreased expression levels of FLNc in the muscle fibers and myofibrillar abnormalities, but not to the formation of desmin-positive protein aggregates required for the diagnosis of myofibrillar myopathy."
5.	Reactive Oxygen Species (Oxygen Radicals)IBA 01/01/2019 - "As a result of exposure to pro-oxidizing, but not cytotoxic, H2O2 concentration, the p-38MAPK-mediated phosphorylation of HSPB5 resulted functional to promote its interaction with the myofibrillar components, such as β-actin, desmin and filamin 1. This study provides novel information on the molecular pathway underlying the HSPB5 physiological function in skeletal muscle, confirming the contribution of the pro-oxidant environment in HSPB5 activation and interaction with substrate/client myofibrillar proteins, offering new insights for the study of myofibrillar myopathies and cardiomyopathies."
6.	Thymidine PhosphorylaseIBA 12/01/2010 - "Suspected cases of mitochondrial neurogastrointestinal encephalopathy (MNGIE), myofibrillar myopathy (MFM) and distal myopathy with rimmed vacuoles (DMRV) were confirmed by molecular genetic studies examining thymidine phosphorylase, GNE, ZASP myotilin, desmin, abeta-crystalline and filamin C genes. "
7.	Messenger RNA (mRNA)IBA 06/11/2021 - "This study evaluated molecular and ultrastructural signatures of myofibrillar myopathy in Warmblood horses through gluteal muscle tandem-mass-tag quantitative proteomics (5 affected, 4 control), mRNA-sequencing (8 affected, 8 control), amalgamated gene ontology analyses, and immunofluorescent and electron microscopy. "
8.	DNA (Deoxyribonucleic Acid)IBA 04/01/2015 - "In this study, DNA from 79 patients with sIBM was collected and the sequencing of 38 genes associated with hereditary inclusion body myopathy (IBM), myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, distal myopathy, amyotrophic lateral sclerosis and dementia along with C9orf72 hexanucleotide repeat analysis was performed. "
9.	desmuslin (synemin)IBA 07/01/2003 - "Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases." 07/01/2003 - "In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering from myofibrillar myopathy (MM, n=6), dermatomyositis (DM, n=3), inclusion body myositis (IBM, n=5), oculopharyngeal muscular dystrophy (OPD, n=3) and denervation atrophy (DA, n=3), to investigate the possible participation of this protein in the pathogenesis of various muscular diseases. "
10.	Protein AggregatesIBA 07/14/2023 - "which developed a myopathic phenotype consistent with that of human myofibrillar myopathy, including the formation of protein aggregates. " 07/14/2023 - "Myofibrillar myopathies (MFMs) are a group of hereditary neuromuscular disorders sharing common histological features, such as myofibrillar derangement, Z-disk disintegration, and the accumulation of degradation products into protein aggregates. " 01/01/2023 - "Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically characterized by accumulation of protein aggregates and structural failure of muscle fibers. " 10/01/2016 - "Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. " 10/01/2016 - "Myofibrillar myopathies (MFM) are mostly adult-onset diseases characterized by progressive morphological alterations of the muscle fibers beginning in the Z-disk and the presence of protein aggregates in the sarcoplasm. "

Therapies and Procedures

1.	Therapeutics 01/01/2016 - "This study therefore identifies both BAG3 reduction and autophagy promotion as potential therapies for FLNCW2710X myofibrillar myopathy, and identifies protein insufficiency due to sequestration, compounded by impaired autophagy, as the cause." 09/15/2012 - "The remarkable similarities in the myopathology between our models and filamin-related myofibrillar myopathy makes them suitable for the study of these diseases and provides unique opportunities for the investigation of the function of filamin C in muscle and development of therapies." 01/01/2021 - "To elucidate the mechanism of disease in, and identify therapies for, BAG3 myofibrillar myopathy, we generated two zebrafish models, one conditionally expressing BAG3P209L and one with a nonsense mutation in bag3. " 11/12/2010 - "These proteins are possible targets for further research to identify therapies for myofibrillar myopathy or other degenerative diseases."
2.	Denervation 12/01/2003 - "Both had myopathic electromyogram with abnormal electrical irritability and muscle biopsy findings of myofibrillar myopathy and mild denervation. " 07/01/2003 - "In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering from myofibrillar myopathy (MM, n=6), dermatomyositis (DM, n=3), inclusion body myositis (IBM, n=5), oculopharyngeal muscular dystrophy (OPD, n=3) and denervation atrophy (DA, n=3), to investigate the possible participation of this protein in the pathogenesis of various muscular diseases. "
3.	Lasers (Laser) 01/01/2013 - "With the aim to get new insights in aggregate composition, we collected aggregates and control tissue from skeletal muscle biopsies of six myofibrillar myopathy patients harboring three different FLNC mutations by laser microdissection and analyzed the samples by a label-free mass spectrometry approach. " 12/01/2012 - "Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components."
4.	Drug Therapy (Chemotherapy) 08/01/2014 - "We report the case of a young female with myofibrillar myopathy and deteriorating heart failure due to restrictive cardiomyopathy and recurrent atrial fibrillation and atrial tachycardias intolerant to pharmacotherapy. "
5.	Radiofrequency Ablation 08/01/2014 - "Radiofrequency ablation of atrial fibrillation and flutter has so far not been reported in myofibrillar myopathy. " 08/01/2014 - "Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy."