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Limb girdle muscular dystrophy

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https://www.readbyqxmd.com/read/29312873/left-ventricular-deformation-abnormalities-in-a-patient-with-calpainopathy-a-case-from-the-three-dimensional-speckle-tracking-echocardiographic-magyar-path-study
#1
Attila Nemes, Lívia Dézsi, Péter Domsik, Anita Kalapos, Tamás Forster, László Vécsei
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the CAPN3 gene encoding calpain, a protein involved in muscle membrane remodeling and repair. This paper gives an overview of the genetic background, clinical course, and diagnosis of the disease, and presents the first case of calpainopathy in which cardiac deformation mechanics was investigated. Three-dimensional speckle-tracking echocardiography (3DSTE) demonstrated reduced left ventricular (LV) strains and increased LV apical rotation and twist, suggestive of asymptomatic subclinical LV dysfunction...
December 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/29278724/perturbation-of-muscle-metabolism-in-patients-with-muscular-dystrophy-in-early-or-acute-phase-of-disease-in-vitro-high-resolution-nmr-spectroscopy-based-analysis
#2
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Neeraj Sinha
BACKGROUND: Muscular dystrophy is an inherited muscle disease, characterized by progressive muscle wasting and weakness of variable distribution and severity. METHODS: In vitro, high-resolution proton nuclear magnetic resonance (NMR) spectroscopy based analysis was performed on perchloric acid (PCA) extract of muscle specimens of patients suffering from various types of muscular dystrophies to identify alteration in hydrophilic low-molecular weight substances (aqueous metabolites) as compared to muscle of control subjects as well as in between the types of muscular dystrophy...
December 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29273094/b3galnt2-mutations-associated-with-non-syndromic-autosomal-recessive-intellectual-disability-reveal-a-lack-of-genotype-phenotype-associations-in-the-muscular-dystrophy-dystroglycanopathies
#3
Reza Maroofian, Moniek Riemersma, Lucas T Jae, Narges Zhianabed, Marjolein H Willemsen, Willemijn M Wissink-Lindhout, Michèl A Willemsen, Arjan P M de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J Lefeber, Hans van Bokhoven
BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients. METHODS: Using linkage mapping and whole-exome sequencing in two families with an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2...
December 22, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29246662/corrigendum-to-a-homozygous-dpm3-mutation-in-a-patient-with-alpha-dystroglycan-related-limb-girdle-muscular-dystrophy-neuromuscular-disorders-27-11-2017-1043-1046
#4
P Y K Van den Bergh, Y Sznajer, V Van Parys, W van Tol, R A Wevers, D J Lefeber, L Xu, M Lek, D G MacArthur, K Johnson, L Phillips, A Töpf, V Straub
No abstract text is available yet for this article.
December 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29241457/impaired-regeneration-in-calpain-3-null-muscle-is-associated-with-perturbations-in-mtorc1-signaling-and-defective-mitochondrial-biogenesis
#5
Mehmet E Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A Hussain, Kimberly M Shontz, Chrystal L Montgomery, Kevin M Flanigan, Sarah Lewis, Zarife Sahenk
BACKGROUND: Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle. METHODS: To gain insight into pathogenesis of aberrant muscle regeneration in LGMD2A, we used a paradigm of cardiotoxin (CTX)-induced cycles of muscle necrosis and regeneration in the CAPN3-KO mice to simulate the early features of the dystrophic process in LGMD2A. The temporal evolution of the regeneration process was followed by assessing the oxidative state, size, and the number of metabolic fiber types at 4 and 12 weeks after last CTX injection...
December 14, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29236822/the-relative-frequency-of-common-neuromuscular-diagnoses-in-a-reference-center
#6
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/29179028/kinematic-analysis-of-scapular-movements-in-patients-with-facioscapulohumeral-muscular-dystrophy
#7
C Savcun Demirci, E Turgut, E Ayvat, Ö Onursal, F Ayvat, T I Yıldız, I Düzgün, M Kılınç, S Aksu Yıldırım
The purpose of this study is to evaluate scapular movements by the three-dimensional electromagnetic system during shoulder elevation in FSHMD patients, and to compare the results with healthy individuals. 10 patients with FSHMD and 10 healthy individuals were included in the study. Scapular anterior-posterior tilt, upward-downward rotation and internal-external rotation at 30°, 60° and 90° were evaluated using the three-dimensional electromagnetic system during the elevation of the upper limbs in the scapular plane...
November 14, 2017: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/29175948/increased-non-hdl-cholesterol-levels-cause-muscle-wasting-and-ambulatory-dysfunction-in-the-mouse-model-of-lgmd2b
#8
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/29175898/limb-girdle-muscular-dystrophy-due-to-mutations-in-pomt2
#9
Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Peter De Jonghe, Jonathan Baets, Kristl G Claeys, Roberto Fernández-Torrón, Lauren Phillips, Ana Topf, Jaume Colomer, Shahriar Nafissi, Shirin Jamal-Omidi, Celine Bouchet-Seraphin, France Leturcq, Daniel G MacArthur, Monkol Lek, Liwen Xu, Isabelle Nelson, Volker Straub, John Vissing
BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far.ClinicalTrials.gov ID: NCT02759302 METHODS: We report 12 new cases of LGMD2N, aged 18-63 years. Muscle involvement was assessed by MRI, muscle strength testing and muscle biopsy analysis...
November 24, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29159199/dna-mediated-gene-therapy-in-a-mouse-model-of-limb-girdle-muscular-dystrophy-2b
#10
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P Calos
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular injection method that perfused naked plasmid DNA into all major muscle groups of the hind limb. We monitored delivery by luciferase live imaging and western blot, confirming strong dysferlin expression that persisted over the 3-month time course of the experiment...
December 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29129380/evaluation-of-activities-of-daily-living-in-patients-with-slowly-progressive-neuromuscular-diseases
#11
Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan Kochanowski
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases. The study was conducted on a group of 58 Polish patients: 25 patients with HMSN, 19 with LGMD and FSHD and 14 with SMA3...
October 27, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29116571/quality-of-life-in-adult-patients-with-limb-girdle-muscular-dystrophies
#12
Marina Peric, Stojan Peric, Jelena Stevanovic, Sara Milovanovic, Ivana Basta, Ana Nikolic, Aleksandra Kacar, Vidosava Rakocevic-Stojanovic
Although limb-girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD, and to identify the most significant predictors of QoL. The study comprised 46 patients with diagnosis of limb-girdle muscular weakness. QoL in patients was evaluated using two scales-SF-36 questionnaire and the Individualized Neuromuscular Quality of Life questionnaire (INQoL). Following scales were also applied: Epworth Sleepiness Scale (ESS), Hamilton Scale for Depression (HamD), and Krupp's Fatigue Severity Scale (FSS)...
November 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29102430/involvement-of-pelvic-girdle-and-proximal-leg-muscles-in-early-oculopharyngeal-muscular-dystrophy
#13
B M van der Sluijs, S Lassche, G J Knuiman, B Kusters, A Heerschap, M Hopman, T H Schreuder, B G M van Engelen, N C Voermans
Although limb girdle weakness is not part of the major diagnostic criteria of oculopharyngeal muscular dystrophy (OPMD), it has frequently been observed in the Dutch and other OPMD cohorts. In the Dutch cohort, this might be related to the relatively old age or the severity of the genetic defect. This patient-control study (14 OPMD patients and 12 controls) investigated the involvement of limb girdle muscles with a multidimensional approach in early OPMD. We assessed functional abilities, disease impact, physical activity, muscle strength, histopathology and fatty infiltration using questionnaires, actometer, functional tests, manual and quantitative muscle testing, muscle biopsy and muscle MRI...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29067661/designing-effective-antisense-oligonucleotides-for-exon-skipping
#14
Takenori Shimo, Rika Maruyama, Toshifumi Yokota
During the past 10 years, antisense oligonucleotide-mediated exon skipping and splice modulation have proven to be powerful tools for correction of mRNA splicing in genetic diseases. In 2016, the US Food and Drug Administration (FDA)-approved Exondys 51 (eteplirsen) and Spinraza (nusinersen), the first exon skipping and exon inclusion drugs, to treat patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), respectively. The exon skipping of DMD mRNA aims to restore the disrupted reading frame using antisense oligonucleotides (AONs), allowing the production of truncated but partly functional dystrophin proteins, and slow down the progression of the disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29057633/early-onset-lmna-associated-muscular-dystrophy-with-later-involvement-of-contracture
#15
Younggun Lee, Jung Hwan Lee, Hyung Jun Park, Young Chul Choi
BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy...
October 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29034878/generation-of-an-induced-pluripotent-stem-cell-line-cscrmi001-a-from-a-patient-with-a-new-type-of-limb-girdle-muscular-dystrophy-lgmd-due-to-a-missense-mutation-in-poglut1-rumi
#16
Jianbo Wu, Samuel D Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi
Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C consensus sequence such as Notch receptors. Affected patients demonstrate reduced Notch signaling, decreased muscle stem cell pool and hypoglycosylation of α-dystroglycan, leading to LGMD phenotype. Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29033278/different-profiles-of-upper-limb-function-in-four-types-of-neuromuscular-disorders
#17
Arjen Bergsma, Mariska M H P Janssen, Alexander C H Geurts, Edith H C Cup, Imelda J M de Groot
The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) - FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) - and to investigate whether common or different profiles could be identified. Total of 267 respondents with NMD from the Netherlands answered a set of questionnaires covering upper limb impairments (pain and stiffness), activity limitations and participation restrictions...
September 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28931339/limb-girdle-muscular-dystrophy-type-2i-two-chinese-families-and-a-review-in-asian-patients
#18
Dan-Ni Wang, Zhi-Qiang Wang, Yu-Qing Chen, Guo-Rong Xu, Min-Ting Lin, Ning Wang
BACKGROUND: Limb-girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive hereditary disorder caused by mutations in the fukutin-related protein (FKRP) gene. Although the features of the disorder in European patients have been summarized, Asian patients with LGMD2I have rarely been reported. Thus, the clinical differences in LGMD2I between Asian and European patients and the associated genetic changes remain unclear. METHODS: We reported detailed clinical data as well as results from muscle biopsy, muscle MRI and genetic analysis of the FKRP gene in two unrelated Chinese families with LGMD2I...
October 2, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#19
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28904466/detection-of-dysferlin-gene-pathogenic-variants-in-the-indian-population-in-patients-predicted-to-have-a-dysferlinopathy-using-a-blood-based-monocyte-assay-and-clinical-algorithm-a-model-for-accurate-and-cost-effective-diagnosis
#20
Rashna Sam Dastur, Pradnya Satish Gaitonde, Munira Kachwala, Babi R R Nallamilli, Arunkanth Ankala, Satish V Khadilkar, Nalini Atchayaram, N Gayathri, A K Meena, Laura Rufibach, Sarah Shira, Madhuri Hegde
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is the most common adult-onset class of muscular dystrophies in India, but a majority of suspected LGMDs in India remain unclassified to the genetic subtype level. The next-generation sequencing (NGS)-based approaches have allowed molecular characterization and subtype diagnosis in a majority of these patients in India. MATERIALS AND METHODS: (I) To select probable dysferlinopathy (LGMD2B) cases from other LGMD subtypes using two screening methods (i) to determine the status of dysferlin protein expression in blood (peripheral blood mononuclear cell) by monocyte assay (ii) using a predictive algorithm called automated LGMD diagnostic assistant (ALDA) to obtain possible LGMD subtypes based on clinical symptoms...
July 2017: Annals of Indian Academy of Neurology
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