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Muscular myopathy

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https://www.readbyqxmd.com/read/29338614/the-two-mutations-of-actin-myosin-interface-and-their-effect-on-the-dynamics-structures-and-functions-of-skeletal-muscle-actin
#1
Faeze Sadat Mohajer, Sepideh Parvizpour, Jafar Razmara, Mohd Shahir Shamsir
Congenital myopathy is a broad category of muscular diseases with symptoms appearing at the time of birth. One type of congenital myopathy is Congenital Fiber Type Disproportion (CFTD), a severely debilitating disease. The G48D and G48C mutations in the D-loop and the actin-myosin interface are the two causes of CFTD. These mutations have been shown to significantly affect the structure and function of muscle fibers. To the author's knowledge, the effects of these mutations have not yet been studied. In this work, the power stroke structure of the head domain of myosin and the wild and mutated types of actin were modeled...
January 17, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29329193/mustn1-a-developmentally-regulated-pan-musculoskeletal-cell-marker-and-regulatory-gene
#2
REVIEW
Michael Hadjiargyrou
The Mustn1 gene encodes a small nuclear protein (~9.6 kDa) that does not belong to any known family. Its genomic organization consists of three exons interspersed by two introns and it is highly homologous across vertebrate species. Promoter analyses revealed that its expression is regulated by the AP family of transcription factors, especially c-Fos, Fra-2 and JunD. Mustn1 is predominantly expressed in the major tissues of the musculoskeletal system: bone, cartilage, skeletal muscle and tendon. Its expression has been associated with normal embryonic development, postnatal growth, exercise, and regeneration of bone and skeletal muscle...
January 12, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29298901/five-year-follow-up-and-outcomes-of-noninvasive-ventilation-in-subjects-with-neuromuscular-diseases
#3
Mi Ri Suh, Won Ah Choi, Dong Hyun Kim, Jang Woo Lee, Eun Young Kim, Seong-Woong Kang
INTRODUCTION: The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. METHODS: We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group...
January 3, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29277723/collagen-vi-disorders-insights-on-form-and-function-in-the-extracellular-matrix-and-beyond
#4
REVIEW
Shireen R Lamandé, John F Bateman
Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich congenital muscular dystrophy. Mutations can be either dominant or recessive and the resulting clinical severity is influenced by the way mutations impact the complex collagen VI assembly process. Most mutations are found towards the N-terminus of the triple helical collagenous domain and compromise extracellular microfibril assembly. Outside the triple helix collagen VI is highly polymorphic and discriminating mutations from rare benign changes remains a major diagnostic challenge...
December 22, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29260357/mutations-outside-the-n-terminal-part-of-rbck1-may-cause-polyglucosan-body-myopathy-with-immunological-dysfunction-expanding-the-genotype-phenotype-spectrum
#5
Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, Jakob Rath, Matias Wagner, Tobias B Haack, Tim M Strom, Anne Schänzer, Manfred W Kilimann, Ralf L J Schmidt, Klaus G Schmetterer, Alexander Zimprich, Kaan Boztug, Andreas Hahn, Fritz Zimprich
A subset of patients with polyglucosan body myopathy was found to have underlying mutations in the RBCK1 gene. Affected patients may display diverse symptoms ranging from skeletal muscular weakness, cardiomyopathy to chronic autoinflammation and immunodeficiency. It was suggested that the exact localization of the mutation within the gene might be responsible for the specific phenotype, with N-terminal mutations causing severe immunological dysfunction and mutations in the middle or C-terminal part leading to a myopathy phenotype...
December 19, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29249377/history-and-current-difficulties-in-classifying-inherited-myopathies-and-muscular-dystrophies
#6
Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29246312/crispr-cas9-mediated-deletion-of-ctg-expansions-recovers-normal-phenotype-in-myogenic-cells-derived-from-myotonic-dystrophy-1-patients
#7
Claudia Provenzano, Marisa Cappella, Rea Valaperta, Rosanna Cardani, Giovanni Meola, Fabio Martelli, Beatrice Cardinali, Germana Falcone
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29244830/transcriptome-profiling-identifies-regulators-of-pathogenesis-in-collagen-vi-related-muscular-dystrophy
#8
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN mutations allow incorporation of abnormal chains into secreted tetramers and are the most commonly identified mutation type in COL6-RD...
2017: PloS One
https://www.readbyqxmd.com/read/29236822/the-relative-frequency-of-common-neuromuscular-diagnoses-in-a-reference-center
#9
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. OBJECTIVE: To report the relative frequency of common neuromuscular diagnoses in a reference center. METHODS: A 17-year chart review of patients with suspicion of myopathy. RESULTS: Among 3,412 examinations, 1,603 (46...
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29222707/quantitative-3d-scintigraphy-shows-increased-muscular-uptake-of-pyrophosphate-in-idiopathic-inflammatory-myopathy
#10
Karin Folmer Thøgersen, Jane Angel Simonsen, Svend Hvidsten, Oke Gerke, Søren Jacobsen, Poul Flemming Høilund-Carlsen, Karen Middelbo Buch-Olsen, Louise Pyndt Diederichsen
BACKGROUND: Nuclear imaging is increasingly being used in the diagnostic work-up of idiopathic inflammatory myopathy (IIM). Increased muscular uptake of technetium-99m-pyrophosphate (99mTc-PYP) has hitherto been assessed qualitatively by planar scintigraphy. We set out to perform quantitative tomographic scintigraphy in IIM. RESULTS: Ninety IIM patients and 48 control subjects underwent 99mTc-PYP single-photon emission computed tomography (SPECT)/CT of the upper and lower body...
December 8, 2017: EJNMMI Research
https://www.readbyqxmd.com/read/29209666/novel-duplication-mutation-of-the-dysf-gene-in-a-pakistani-family-with-miyoshi-myopathy
#11
Muhammad I Ullah, Arsalan Ahmad, Milena Zarkovic, Syed S Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A Hubner, Muhammad J Hassan
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29203713/therapeutic-potential-of-heat-shock-protein-induction-for-muscular-dystrophy-and-other-muscle-wasting-conditions
#12
REVIEW
Savant S Thakur, Kristy Swiderski, James G Ryall, Gordon S Lynch
Duchenne muscular dystrophy is the most common and severe of the muscular dystrophies, a group of inherited myopathies caused by different genetic mutations leading to aberrant expression or complete absence of cytoskeletal proteins. Dystrophic muscles are prone to injury, and regenerate poorly after damage. Remorseless cycles of muscle fibre breakdown and incomplete repair lead to progressive and severe muscle wasting, weakness and premature death. Many other conditions are similarly characterized by muscle wasting, including sarcopenia, cancer cachexia, sepsis, denervation, burns, and chronic obstructive pulmonary disease...
January 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29192144/downregulation-of-myostatin-pathway-in-neuromuscular-diseases-may-explain-challenges-of-anti-myostatin-therapeutic-approaches
#13
Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro M Machado, Thomas Voit, Ana Buj-Bello, Julie Dumonceaux
Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues. Several drugs targeting the myostatin pathway have been used in clinical trials to increase muscle mass and function but most showed limited efficacy. Here we show that the expression of components of the myostatin signaling pathway is downregulated in muscle wasting or atrophying diseases, with a decrease of myostatin and activin receptor, and an increase of the myostatin antagonist, follistatin. We also provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotubularin coding gene Mtm1) that a down-regulated myostatin pathway can be reactivated by correcting the underlying gene defect...
November 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/29190034/the-role-of-%C3%AE-b-crystallin-in-skeletal-and-cardiac-muscle-tissues
#14
REVIEW
Ivan Dimauro, Ambra Antonioni, Neri Mercatelli, Daniela Caporossi
All organisms and cells respond to various stress conditions such as environmental, metabolic, or pathophysiological stress by generally upregulating, among others, the expression and/or activation of a group of proteins called heat shock proteins (HSPs). Among the HSPs, special attention has been devoted to the mutations affecting the function of the αB-crystallin (HSPB5), a small heat shock protein (sHsp) playing a critical role in the modulation of several cellular processes related to survival and stress recovery, such as protein degradation, cytoskeletal stabilization, and apoptosis...
November 30, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29190010/are-mechanically-sensitive-regulators-involved-in-the-function-and-patho-physiology-of-cerebral-palsy-related-contractures
#15
Jessica Pingel, Frank Suhr
Skeletal muscle tissue is mechanosensitive, as it is able to sense mechanical impacts and to translate these into biochemical signals making the tissue adapt. Among its mechanosensitive nature, skeletal muscle tissue is the largest metabolic organ of the human body. Disturbances in skeletal muscle mechanosensing and metabolism cause and contribute to many diseases, i.e. muscular dystrophies/myopathies, cardiovascular diseases, COPD or diabetes mellitus type 2. A less commonly focused muscle-related disorder is clinically known as muscle contractures that derive from cerebral palsy (CP) conditions in young and adults...
November 30, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/29188600/killing-two-birds-with-one-stone-the-multifunctional-roles-of-mesenchymal-stem-cells-in-the-treatment-of-neurodegenerative-and-muscle-diseases
#16
REVIEW
Na Kyung Lee, Duk L Na, Jong Wook Chang
Neurodegenerative and muscle diseases bear both complex and multifactorial pathologies. An efficacious and robust therapeutic option to treat these diseases is yet to be elucidated. At such a time, mesenchymal stem cells have drawn significant attention due to their immunomodulatory and regenerative properties. Accumulating evidence has proposed the capability of MSCs to serve multiple roles in a broad spectrum of diseases by secretion of trophic or paracrine factors. In the present review, we will look into the recent literature and discuss the therapeutic functions of MSCs and their potential to treat various neurodegenerative (Alzheimer's, Parkinson's, and Huntington's disease) and muscle (Duchenne muscular dystrophy, myopathy, and multiple sclerosis) diseases...
November 30, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/29178965/a-child-with-distal-type-1-renal-tubular-acidosis-presenting-with-progressive-gross-motor-developmental-regression-and-acute-paralysis
#17
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage
BACKGROUND: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Though persistent hypokalemia is frequently seen in dRTA, hypokalemic muscular paralysis is uncommon and rarely described in children...
November 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29175948/increased-non-hdl-cholesterol-levels-cause-muscle-wasting-and-ambulatory-dysfunction-in-the-mouse-model-of-lgmd2b
#18
Stephanie L Sellers, Nadia Milad, Zoe White, Chris D Pascoe, Rayleigh Chan, Geoffrey W Payne, Chun Y Seow, Fabio Rossi, Michael A Seidman, Pascal Bernatchez
Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. However, animal models fail to fully reproduce the disease severity observed in humans, with Dysferlin-null (Dysf-/-) mice exhibiting minor muscle damage and weakness without dramatic ambulatory dysfunction. As we have previously reported significant Dysf expression in blood vessels, we investigated the role of vascular function in development of muscle pathology by generating a Dysf-deficient mouse model with vascular disease...
November 25, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/29172004/early-onset-myopathies-clinical-findings-prevalence-of-subgroups-and-diagnostic-approach-in-a-single-neuromuscular-referral-center-in-germany
#19
K Vill, A Blaschek, D Gläser, M Kuhn, T Haack, B Alhaddad, M Wagner, R Kovacs-Nagy, M Tacke, L Gerstl, A S Schroeder, I Borggraefe, C Mueller, B Schlotter-Weigel, B Schoser, M C Walter, W Müller-Felber
BACKGROUND: Early-onset myopathies are a heterogeneous group of neuromuscular diseases with broad clinical, genetic and histopathological overlap. The diagnostic approach has considerably changed since high throughput genetic methods (next generation sequencing, NGS) became available. OBJECTIVE: We present diagnostic subgroups in a single neuromuscular referral center and describe an algorithm for the diagnostic work-up. METHODS: The diagnostic approach of 98 index patients was retrospectively analysed...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29170849/myh7-mutation-associated-with-two-phenotypes-of-myopathy
#20
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis...
November 24, 2017: Neurological Sciences
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