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https://www.readbyqxmd.com/read/28069416/abnormal-lipid-metabolism-in-skeletal-muscle-tissue-of-patients-with-muscular-dystrophy-in-vitro-high-resolution-nmr-spectroscopy-based-observation-in-early-phase-of-the-disease
#1
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Lily Pal, Neeraj Sinha
PURPOSE: Qualitative (assignment of lipid components) and quantitative (quantification of lipid components) analysis of lipid components were performed in skeletal muscle tissue of patients with muscular dystrophy in early phase of the disease as compared to control/normal subjects. METHODS: Proton nuclear magnetic resonance (NMR) spectroscopy based experiment was performed on the lipid extract of skeletal muscle tissue of patients with muscular dystrophy in early phase of the disease and normal individuals for the analysis of lipid components [triglycerides, phospholipids, total cholesterol and unsaturated fatty acids (arachidonic, linolenic and linoleic acid)]...
January 6, 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28000226/abnormal-spontaneous-activity-in-primary-myopathic-disorders
#2
Monika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Lusakowska, Biruta Kierdaszuk, Marta Lipowska, Anna Macias, Damian Gawel, Andrzej Seroka, Anna M Kaminska
INTRODUCTION: Reproducible noninsertional spontaneous activity (SA), with the exception of end-plate activity, is an unequivocal sign of abnormality and is one of the most useful findings on electromyography. METHODS: In this retrospective study we analyzed occurrence and distribution of abnormal SA in 151 patients with genetically confirmed myopathies. RESULTS: Complex repetitive discharges (CRD) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSW) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fib/PSW were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD)...
December 21, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27974213/reversal-of-defective-mitochondrial-biogenesis-in-limb-girdle-muscular-dystrophy-2d-by-independent-modulation-of-histone-and-pgc-1%C3%AE-acetylation
#3
Sarah Pambianco, Matteo Giovarelli, Cristiana Perrotta, Silvia Zecchini, Davide Cervia, Ilaria Di Renzo, Claudia Moscheni, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Maria Teresa Bassi, Pier Lorenzo Puri, Lucia Latella, Emilio Clementi, Clara De Palma
Mitochondrial dysfunction occurs in many muscle degenerative disorders. Here, we demonstrate that mitochondrial biogenesis was impaired in limb-girdle muscular dystrophy (LGMD) 2D patients and mice and was associated with impaired OxPhos capacity. Two distinct approaches that modulated histones or peroxisome proliferator-activated receptor-gamma coactivator 1 α (PGC-1α) acetylation exerted equivalent functional effects by targeting different mitochondrial pathways (mitochondrial biogenesis or fatty acid oxidation[FAO])...
December 13, 2016: Cell Reports
https://www.readbyqxmd.com/read/27935071/severe-murine-limb-girdle-muscular-dystrophy-type-2c-pathology-is-diminished-by-fty720-treatment
#4
Ahlke Heydemann
INTRODUCTION: Limb Girdle Muscular Dystrophy Type 2C (LGMD-2C) is caused by mutations in ɤ-sarcoglycan and is a devastating, progressive, and fully lethal human muscle wasting disease that is without effective treatment. This study examined the efficacy of the sphingosine-1-phosphate receptor modulator FTY720 in treating Sgcg-/-DBA2/J, a severe mouse model of LGMD-2C. FTY720 treatment is expected to target LGMD-2C disease progression at 2 key positions by reducing chronic inflammation and fibrosis...
December 9, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27932089/clinical-and-neuroimaging-findings-in-two-brothers-with-limb-girdle-muscular-dystrophy-due-to-lama2-mutations
#5
Elizabeth Harris, Meriel McEntagart, Ana Topf, Hanns Lochmüller, Kate Bushby, Caroline Sewry, Volker Straub
Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A) and, rarely, limb girdle muscular dystrophy (LGMD). We report 2 brothers who presented in adulthood with LGMD due to novel mutations in LAMA2 identified by whole exome sequencing (WES). Muscle biopsy more than 30 years ago demonstrated dystrophic changes but was not available for immunoanalysis. Muscle MRI demonstrated involvement of peripheral muscle with internal sparing classically seen in collagen-VI related disorders. Extensive genetic testing, including COL6A1/2/3, was performed prior to WES...
November 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27857043/lgmd2d-syndrome-the-importance-of-clinical-and-molecular-genetics-in-patient-and-family-management-case-report
#6
Khalid M Al-Harbi, Atiyeh M Abdallah
We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure...
September 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27854214/homozygosity-of-the-dominant-myotilin-c-179c-t-p-ser60phe-mutation-causes-a-more-severe-and-proximal-muscular-dystrophy
#7
Gabrielle Rudolf, Tiina Suominen, Sini Penttilä, Peter Hackman, Anni Evilä, Béatrice Lannes, Andoni Echaniz-Laguna, Guillaume Bierry, Christine Tranchant, Bjarne Udd
Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. We report here a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation. One subjectively asymptomatic member of the family was heterozygous for this mutation...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27796757/targeted-next-generation-sequencing-reveals-novel-ttn-mutations-causing-recessive-distal-titinopathy
#8
Anni Evilä, Johanna Palmio, Anna Vihola, Marco Savarese, Giorgio Tasca, Sini Penttilä, Sara Lehtinen, Per Harald Jonson, Jan De Bleecker, Peter Rainer, Michaela Auer-Grumbach, Jean Pouget, Emmanuelle Salort-Campana, Juan J Vilchez, Nuria Muelas, Montse Olive, Peter Hackman, Bjarne Udd
Tibial muscular dystrophy (TMD) is the first described human titinopathy. It is a mild adult-onset slowly progressive myopathy causing weakness and atrophy in the anterior lower leg muscles. TMD is caused by mutations in the last two exons, Mex5 and Mex6, of the titin gene (TTN). The first reported TMD mutations were dominant, but the Finnish founder mutation FINmaj, an 11-bp insertion/deletion in Mex6, in homozygosity caused a completely different severe early-onset limb-girdle muscular dystrophy 2J (LGMD2J)...
October 29, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27785400/sarcolemmal-deficiency-of-sarcoglycan-complex-in-an-18-month-old-turkish-boy-with-a-large-deletion-in-the-beta-sarcoglycan-gene
#9
G Diniz, H Tekgul, F Hazan, K Yararbas, A Tukun
Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27774991/two-identified-looming-detectors-in-the-locust-ubiquitous-lateral-connections-among-their-inputs-contribute-to-selective-responses-to-looming-objects
#10
F Claire Rind, Stefan Wernitznig, Peter Pölt, Armin Zankel, Daniel Gütl, Julieta Sztarker, Gerd Leitinger
In locusts, two lobula giant movement detector neurons (LGMDs) act as looming object detectors. Their reproducible responses to looming and their ethological significance makes them models for single neuron computation. But there is no comprehensive picture of the neurons that connect directly to each LGMD. We used high-through-put serial block-face scanning-electron-microscopy to reconstruct the network of input-synapses onto the LGMDs over spatial scales ranging from single synapses and small circuits, up to dendritic branches and total excitatory input...
October 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27766311/muscle-involvement-in-limb-girdle-muscular-dystrophy-with-gmppb-deficiency-lgmd2t
#11
S T Oestergaard, T Stojkovic, J R Dahlqvist, C Bouchet-Seraphin, J Nectoux, F Leturcq, M Cossée, G Solé, C Thomsen, T O Krag, J Vissing
OBJECTIVE: In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with limb-girdle muscular dystrophy (LGMD) type 2T. METHODS: Six new patients with genetically verified mutations in GMPPB were studied. T1-weighted magnetic resonance images were obtained in 4 participants. Muscle strength and potential involvement of extramuscular organs were examined. Glycosylation of α-dystroglycan in muscle was studied, and GMPPB and α-dystroglycan expression was analyzed by Western blotting...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27708273/the-sensitivity-of-exome-sequencing-in-identifying-pathogenic-mutations-for-lgmd-in-the-united-states
#12
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov, Catherine A Brownstein, David M Margulies, Timothy W Yu, Mustafa A Salih, Louis M Kunkel, Daniel G MacArthur, Peter B Kang
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Pathogenic mutations and cosegregation patterns were confirmed by Sanger sequencing. Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease...
October 6, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27671536/a-first-line-diagnostic-assay-for-limb-girdle-muscular-dystrophy-and-other-myopathies
#13
Dorota Monies, Hindi N Alhindi, Mohamed A Almuhaizea, Mohamed Abouelhoda, Anas M Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M Wakil, Nada A Altassan, Brian F Meyer, Saeed Bohlega
BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes...
September 27, 2016: Human Genomics
https://www.readbyqxmd.com/read/27558075/microrna-signatures-predict-dysregulated-vitamin-d-receptor-and-calcium-pathways-status-in-limb-girdle-muscle-dystrophies-lgmd-2a-2b
#14
M Aguennouz, C Lo Giudice, N Licata, C Rodolico, O Musumeci, M Fanin, A Migliorato, M Ragusa, V Macaione, R M Di Giorgio, C Angelini, A Toscano
miRNA expression profile and predicted pathways involved in selected limb-girdle muscular dystrophy (LGMD)2A/2B patients were investigated. A total of 187 miRNAs were dysregulated in all patients, with six miRNAs showing opposite regulation in LGMD2A versus LGMD2B patients. Silico analysis evidence: (1) a cluster of the dysregulated miRNAs resulted primarily involved in inflammation and calcium metabolism, and (2) two genes predicted as controlled by calcium-assigned miRNAs (Vitamin D Receptor gene and Guanine Nucleotide Binding protein beta polypeptide 1gene) showed an evident upregulation in LGMD2B patients, in accordance with miRNA levels...
August 2016: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/27540592/rare-disease-clinical-trials-power-in-numbers
#15
Matthew P Wicklund
The limb-girdle muscular dystrophies (LGMDs) encompass a collection of genetic muscle diseases with proximal-predominant weakness of the limbs. Thirty-two of these disorders are named via the common nomenclature, including 8 autosomal-dominant (LGMD1A-H) and 24 autosomal-recessive (LGMD2A-X) disorders.(1) In addition, numerous other genetic muscle diseases, including Bethlem myopathy, dystrophinopathies, ryanodine receptor-associated myopathies, and many more, may clinically present with similar proximal-predominant weakness...
August 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27490667/limb-girdle-muscular-dystrophies-classification-clinical-spectrum-and-emerging-therapies
#16
John Vissing
PURPOSE OF REVIEW: The aim of the study was to describe the clinical spectrum of limb girdle muscular dystrophies (LGMDs), the pitfalls of the current classification system for LGMDs, and emerging therapies for these conditions. RECENT FINDINGS: Close to half of all LGMD subtypes have been discovered within the last 6 years of the 21-year-period in which the current classification system for LGMD has existed. The number of letters for annotation of new recessive LGMD conditions is exhausted, and multiple already classified LGMDs do not strictly fulfill diagnostic criteria for LGMD or are registered in other classification systems for muscle disease...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27342937/tor1aip1-as-a-cause-of-cardiac-failure-and-recessive-limb-girdle-muscular-dystrophy
#17
Roula Ghaoui, Tatiana Benavides, Monkol Lek, Leigh B Waddell, Simranpreet Kaur, Kathryn N North, Daniel G MacArthur, Nigel F Clarke, Sandra T Cooper
TorsinA-interacting protein 1 (TOR1AIP1) gene is a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. We report a family with mutations in TOR1AIP1 where the striking clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular dystrophy. We demonstrate an absence of TOR1AIP1 protein expression in cardiac and skeletal muscles of affected siblings. We expand the phenotype of this gene to demonstrate the cardiac involvement and the importance of cardiac surveillance in patients with mutations in TOR1AIP1...
August 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27207786/background-visual-motion-affects-responses-of-an-insect-motion-sensitive-neuron-to-objects-deviating-from-a-collision-course
#18
Jasmine M Yakubowski, Glyn A McMillan, John R Gray
Stimulus complexity affects the response of looming sensitive neurons in a variety of animal taxa. The Lobula Giant Movement Detector/Descending Contralateral Movement Detector (LGMD/DCMD) pathway is well-characterized in the locust visual system. It responds to simple objects approaching on a direct collision course (i.e., looming) as well as complex motion defined by changes in stimulus velocity, trajectory, and transitions, all of which are affected by the presence or absence of background visual motion...
May 2016: Physiological Reports
https://www.readbyqxmd.com/read/27199538/novel-mutations-in-lmna-a-c-gene-and-associated-phenotypes
#19
Roberta Petillo, Paola D'Ambrosio, Annalaura Torella, Antonella Taglia, Esther Picillo, Alessandro Testori, Manuela Ergoli, Gerardo Nigro, Giulio Piluso, Vincenzo Nigro, Luisa Politano
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. More recently they have been associated with dilated cardiomyopathy (DCM) and severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). We report four novel mutations - 3 missense and 1 deletion - in 4 unrelated patients showing different phenotypes, ranging from the early onset congenital form of laminopathy to classical LGMD phenotype, to LGMD and heart involvement...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27184587/the-italian-limb-girdle-muscular-dystrophy-registry-relative-frequency-clinical-features-and-differential-diagnosis
#20
Francesca Magri, Vincenzo Nigro, Corrado Angelini, Tiziana Mongini, Marina Mora, Isabella Moroni, Antonio Toscano, Maria Grazia D'angelo, Giuliano Tomelleri, Gabriele Siciliano, Giulia Ricci, Claudio Bruno, Stefania Corti, Olimpia Musumeci, Giorgio Tasca, Enzo Ricci, Mauro Monforte, Monica Sciacco, Chiara Fiorillo, Sandra Gandossini, Carlo Minetti, Lucia Morandi, Marco Savarese, Giuseppina Di Fruscio, Claudio Semplicini, Elena Pegoraro, Alessandra Govoni, Roberta Brusa, Roberto Del Bo, Dario Ronchi, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi
INTRODUCTION: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. METHODS: We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. RESULTS: LGMD types 2A and 2B are the most frequent forms in Italy...
January 2017: Muscle & Nerve
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