Cargando…

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

BACKGROUND: Genetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) genes are offered commercially to diagnose myofibrillar myopathy (MFM) and type 2 polysaccharide storage myopathy (PSSM2) in Quarter Horses (QH). OBJECTIVES:...

Descripción completa

Detalles Bibliográficos
Autores principales:	Valberg, Stephanie J., Henry, Marisa L., Herrick, Keely L., Velez‐Irizarry, Deborah, Finno, Carrie J., Petersen, Jessica L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Analytical Clinical Studies
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084132/ https://www.ncbi.nlm.nih.gov/pubmed/35288976 http://dx.doi.org/10.1111/evj.13574

Ejemplares similares

Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis
por: Valberg, Stephanie J., et al.
Publicado: (2020)

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
por: Williams, Zoë J., et al.
Publicado: (2021)

Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways
por: Valberg, Stephanie J., et al.
Publicado: (2018)

Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the MYH1 (E321G) mutation
por: Valberg, Stephanie J., et al.
Publicado: (2022)

Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1(E321G)
por: Ochala, Julien, et al.
Publicado: (2021)

Mitochondrial dysfunction in myofibrillar myopathy
por: Vincent, Amy E., et al.
Publicado: (2016)

Myofibrillar Myopathy Mimicking Polyneuropathy
por: Bourque, Pierre R., et al.
Publicado: (2020)

A Window Into the Myofibrillar Myopathy Proteome
por: Liewluck, Teerin
Publicado: (2021)

An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses
por: Valberg, Stephanie J., et al.
Publicado: (2018)

Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy
por: Williams, Zoë J., et al.
Publicado: (2018)

Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson’s disease
por: Wrede, Arne, et al.
Publicado: (2011)

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
por: Hedberg-Oldfors, Carola, et al.
Publicado: (2020)

Anaesthetic management of caesarean section in a patient with myofibrillar myopathy
por: Fernandes, Diana Carolina Lastra, et al.
Publicado: (2023)

Enriched Pathways of Calcium Regulation, Cellular/Oxidative Stress, Inflammation, and Cell Proliferation Characterize Gluteal Muscle of Standardbred Horses between Episodes of Recurrent Exertional Rhabdomyolysis
por: Valberg, Stephanie J., et al.
Publicado: (2022)

Prevalence of the E321G MYH1 variant for immune‐mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses
por: Gianino, Giuliana M., et al.
Publicado: (2019)

Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
por: Fichna, Jakub Piotr, et al.
Publicado: (2014)

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
por: Nicolau, Stefan, et al.
Publicado: (2020)

Corrigendum to: Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
Publicado: (2020)

FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data
por: Kley, Rudolf Andre, et al.
Publicado: (2021)

A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses
por: Finno, Carrie J., et al.
Publicado: (2018)

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
por: Vattemi, G., et al.
Publicado: (2011)

Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy
por: Joanne, Pierre, et al.
Publicado: (2013)

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
por: Finsterer, Josef, et al.
Publicado: (2018)

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches
por: Batonnet-Pichon, Sabrina, et al.
Publicado: (2017)

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
por: Potulska-Chromik, Anna, et al.
Publicado: (2021)

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
por: Papadopoulos, Constantinos, et al.
Publicado: (2023)

Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy
por: Zsoldos, Rebeka Roza, et al.
Publicado: (2021)

Masseter Muscle Myofibrillar Protein Synthesis and Degradation in an Experimental Critical Illness Myopathy Model
por: Akkad, Hazem, et al.
Publicado: (2014)

Role of Myofibrillar Protein Catabolism in Development of Glucocorticoid Myopathy: Aging and Functional Activity Aspects
por: Seene, Teet, et al.
Publicado: (2016)

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy
por: Qian, Fang-Yuan, et al.
Publicado: (2021)

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report
por: Zhan, Liqiong, et al.
Publicado: (2022)

Detection of MCPG metabolites in horses with atypical myopathy
por: Bochnia, Mandy, et al.
Publicado: (2019)

Cerebellar axonopathy in Shivers horses identified by spatial transcriptomic and proteomic analyses
por: Valberg, Stephanie J., et al.
Publicado: (2023)

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy
por: Ebrahimzadeh-Vesal, Reza, et al.
Publicado: (2018)

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
por: Luo, Yue-Bei, et al.
Publicado: (2020)

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age
por: Scarpini, Gaia, et al.
Publicado: (2021)

Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
por: Zhang, Shan-shan, et al.
Publicado: (2023)

Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson’s Disease
por: Petry-Schmelzer, Jan Niklas, et al.
Publicado: (2023)

Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
por: Luo, Yue-Bei, et al.
Publicado: (2021)

High parasternal intercostal muscle thickening associated with diaphragm dysfunction in myofibrillar myopathy: A case study
por: Fayssoil, Abdallah, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ui8qgqlhtfj120veu87j259hd9