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https://www.readbyqxmd.com/read/28007904/cellular-biochemical-and-molecular-changes-in-muscles-from-patients-with-x-linked-myotubular-myopathy-due-to-mtm1-mutations
#1
Christoph Bachmann, Heinz Jungbluth, Francesco Muntoni, Adnan Y Manzur, Francesco Zorzato, Susan Treves
Centronuclear myopathies are early-onset muscle diseases caused by mutations in several genes including MTM1, DNM2, BIN1, RYR1 and TTN The most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in the gene encoding the ubiquitous lipid phosphatase myotubularin, an enzyme specifically dephosphorylating phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Because XLMTM patients have a predominantly muscle-specific phenotype a number of pathogenic mechanisms have been proposed, including a direct effect of the accumulated lipid on the skeletal muscle calcium channel ryanodine receptor 1, a negative effect on the structure of intracellular organelles and defective autophagy...
December 22, 2016: Human Molecular Genetics
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/27989427/exome-sequencing-is-a-valuable-approach-in-critically-ill-patients-with-suspected-monogenic-disease-diagnosis-of-x-linked-centronuclear-myopathy-in-preterm-twins
#3
Jessika Johannsen, Maja Hempel, Thilo Diehl, Tobias B Haack, Jonas Denecke
No abstract text is available yet for this article.
November 22, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27939133/progressive-structural-defects-in-canine-centronuclear-myopathy-indicate-a-role-for-hacd1-in-maintaining-skeletal-muscle-membrane-systems
#4
Gemma L Walmsley, Stéphane Blot, Kerrie Venner, Caroline Sewry, Jocelyn Laporte, Jordan Blondelle, Inès Barthélémy, Marie Maurer, Nicolas Blanchard-Gutton, Fanny Pilot-Storck, Laurent Tiret, Richard J Piercy
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated muscle-specific enzyme in more differentiated skeletal muscle remain unknown. Canine HACD1 deficiency is histopathologically classified as a centronuclear myopathy (CNM). We investigated the hypothesis that muscle from HACD1-deficient dogs has membrane abnormalities in common with CNMs with different genetic causes...
December 8, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27922501/an-overview-of-congenital-myopathies
#5
Jean K Mah, Jeffrey T Joseph
PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27870637/calcium-homeostasis-alterations-in-a-mouse-model-of-the-dynamin-2-related-centronuclear-myopathy
#6
Bodvaël Fraysse, Pascale Guicheney, Marc Bitoun
Autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by centrally located nuclei in muscle fibers. CNM results from mutations in the gene encoding dynamin 2 (DNM2), a large GTPase involved in endocytosis, intracellular membrane trafficking, and cytoskeleton regulation. We developed a knock-in mouse model expressing the most frequent DNM2-CNM mutation; i.e. the KI-Dnm2(R465W) model. Heterozygous (HTZ) KI-Dnm2 mice progressively develop muscle atrophy, impairment of contractile properties, histopathological abnormalities, and elevated cytosolic calcium concentration...
November 15, 2016: Biology Open
https://www.readbyqxmd.com/read/27861221/clinical-electrophysiology-and-pathology-features-of-dynamin-centronuclear-myopathy-a-case-report-and-review-of-literature
#7
Sumit Verma, Suman B Balasubramanian
Dynamin (DNM2) centronuclear myopathy (CNM) has variable age of onset, distal greater than proximal muscle weakness, ptosis with or without extraocular muscle weakness, and a characteristic muscle biopsy with radial sarcoplasmic strands giving spoke like appearance. The following case report highlights clinical, electrophysiology, and pathology features of a genetic confirmed DNM2 CNM subject. In addition, a review of literature on all genetic confirmed DNM2 CNM cases published in English literature from 2006 to 2016 is presented...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27854204/novel-dominant-mutation-in-bin1-gene-causing-mild-centronuclear-myopathy-revealed-by-myalgias-and-ck-elevation
#8
Matteo Garibaldi, Johann Böhm, Fabiana Fattori, Catherine Koch, Cecilia Surace, Pierfrancesco Ottaviani, Francesco Laschena, Jocelyn Laporte, Enrico Bertini, Giovanni Antonini, Norma B Romero
We present the clinical, morphological and molecular data of an Italian family with centronuclear myopathy, carrying a novel pathogenic mutation of BIN1 gene in heterozygous state, consistent with autosomal dominant inheritance. The proband, a 56-years-old man suffered of lower limbs myalgia and slight CK elevation. Clinical examination revealed no muscle weakness, short stature, mild symmetric eyelid ptosis, scapular winging, ankle retraction and well-developed muscles. Muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fibers hypotrophy...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27739277/adult-onset-centronuclear-myopathy
#9
Mugundhan Krishnan, C Selvaraj, S Sivakumar
Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Three forms of the disease are clinically recognized. The severe neonatal form, the childhood onset form, and an adult-onset form. We report a 50 year old male patient with centronuclear myopathy (CNM) in whom the disease manifested itself in the fifth decade of life without any family history of such illness.
June 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27666502/wanted-dead-or-alive-myotubularins-a-large-disease-associated-protein-family
#10
Matthieu A Raess, Sylvie Friant, Belinda S Cowling, Jocelyn Laporte
Myotubularins define a large family of proteins conserved through evolution. Several members are mutated in different neuromuscular diseases including centronuclear myopathies and Charcot-Marie-Tooth (CMT) neuropathies, or are linked to a predisposition to obesity and cancer. While some members have phosphatase activity against the 3-phosphate of phosphoinositides, regulating the phosphorylation status of PtdIns3P and PtdIns(3,5)P2 implicated in membrane trafficking and autophagy, and producing PtdIns5P, others lack key residues in the catalytic site and are classified as dead-phosphatases...
September 15, 2016: Advances in Biological Regulation
https://www.readbyqxmd.com/read/27623444/reprogramming-the-dynamin-2-mrna-by-spliceosome-mediated-rna-trans-splicing
#11
Delphine Trochet, Bernard Prudhon, Arnaud Jollet, Stéphanie Lorain, Marc Bitoun
Dynamin 2 (DNM2) is a large GTPase, ubiquitously expressed, involved in membrane trafficking and regulation of actin and microtubule cytoskeletons. DNM2 mutations cause autosomal dominant centronuclear myopathy which is a rare congenital myopathy characterized by skeletal muscle weakness and histopathological features including nuclear centralization in absence of regeneration. No curative treatment is currently available for the DNM2-related autosomal dominant centronuclear myopathy. In order to develop therapeutic strategy, we evaluated here the potential of Spliceosome-Mediated RNA Trans-splicing technology to reprogram the Dnm2-mRNA in vitro and in vivo in mice...
2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27558158/malignant-hyperthermia-associated-mutations-in-the-s2-s3-cytoplasmic-loop-of-type-1-ryanodine-receptor-calcium-channel-impair-calcium-dependent-inactivation
#12
Angela C Gomez, Timothy W Holford, Naohiro Yamaguchi
Channel activities of skeletal muscle ryanodine receptor (RyR1) are activated by micromolar Ca(2+) and inactivated by higher (∼1 mM) Ca(2+) To gain insight into a mechanism underlying Ca(2+)-dependent inactivation of RyR1 and its relationship with skeletal muscle diseases, we constructed nine recombinant RyR1 mutants carrying malignant hyperthermia or centronuclear myopathy-associated mutations and determined RyR1 channel activities by [(3)H]ryanodine binding assay. These mutations are localized in or near the RyR1 domains which are responsible for Ca(2+)-dependent inactivation of RyR1...
November 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27538056/congenital-myopathies-not-only-a-paediatric-topic
#13
Heinz Jungbluth, Nicol C Voermans
PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and nemaline myopathy - with an emphasis on common genetic backgrounds, typical clinicopathological features and differential diagnosis. RECENT FINDINGS: The congenital myopathies are a genetically heterogeneous group of conditions with characteristic histopathological features. Although essentially considered paediatric conditions, some forms - in particular those due to dominant mutations in the skeletal muscle ryanodine receptor (RYR1), the dynamin 2 (DNM2), the amphiphysin 2 (BIN1) and the Kelch repeat-and BTB/POZ domain-containing protein 13 (KBTBD13) gene - may present late into adulthood...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27515125/current-and-future-therapeutic-approaches-to-the-congenital-myopathies
#14
REVIEW
Heinz Jungbluth, Julien Ochala, Susan Treves, Mathias Gautel
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), Nemaline Myopathy (NM) and Congenital Fibre Type Disproportion (CFTD) - are a genetically heterogeneous group of early-onset neuromuscular conditions characterized by distinct histopathological features, and associated with a substantial individual and societal disease burden. Appropriate supportive management has substantially improved patient morbidity and mortality but there is currently no cure...
August 8, 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/27343996/structural-insights-into-the-centronuclear-myopathy-associated-functions-of-bin1-and-dynamin-2
#15
Annika Hohendahl, Aurélien Roux, Valentina Galli
Centronuclear myopathies (CNMs) are genetic diseases whose symptoms are muscle weakness and atrophy (wasting) and centralised nuclei. Recent human genetic studies have isolated several groups of mutations. Among them, many are found in two interacting proteins essential to clathrin-mediated endocytosis, dynamin and the BIN-Amphiphysin-Rvs (BAR) protein BIN1/amphiphysin 2. In this review, by using structural and functional data from the study of endocytosis mainly, we discuss how the CNM mutations could affect the structure and the function of these ubiquitous proteins and cause the muscle-specific phenotype...
October 2016: Journal of Structural Biology
https://www.readbyqxmd.com/read/27293330/coexistence-of-central-nucleus-cores-and-rods-diagnostic-relevance
#16
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa
BACKGROUND: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. OBJECTIVE: A retrospective reassessment of cases diagnosed as CMs to look for multiple pathologies missed, if any, during the initial diagnosis. MATERIALS AND METHODS: Enzyme histochemical, and immunohistochemical-stained slides from 125 cases diagnosed as congenital myopathy were reassessed...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27198895/erratum-reply-respiratory-motor-function-in-centronuclear-myopathy
#17
(no author information available yet)
No abstract text is available yet for this article.
June 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27198894/erratum-respiratory-motor-function-in-individuals-with-centronuclear-myopathies
#18
(no author information available yet)
No abstract text is available yet for this article.
June 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27176730/-retracted-clinical-pathological-and-genetic-characteristics-of-autosomal-dominant-inherited-dynamin%C3%A2-2-centronuclear-myopathy
#19
Xinhong Liu, Huamin Wu, Jian Gong, Tao Wang, Chuanzhu Yan
We wish to retract our article entitled 'Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy' published in Molecular Medicine Reports 13: 4273-4278, 2016. The article was submitted by the first author, Xinhong Liu, without the prior knowledge of the corresponding author, Chuanzhu Yan, or the other authors included on the paper. Furthermore, the details of the paper were not discussed by the authors prior to the submission, and all are in agreement that the paper contains data therein (and interpretations thereof) which are either inaccurate or inappropriate...
July 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27155155/expression-of-myotubularins-in-blood-platelets-characterization-and-potential-diagnostic-of-x-linked-myotubular-myopathy
#20
Rana Mansour, Sonia Severin, Jean-Marie Xuereb, Marie-Pierre Gratacap, Jocelyn Laporte, Ana Buj-Bello, Hélène Tronchère, Bernard Payrastre
Phosphoinositides play a key role in the spatiotemporal control of central intracellular processes and several specific kinases and phosphatases regulating the level of these lipids are implicated in human diseases. Myotubularins are a family of 3-phosphatases acting specifically on phosphatidylinositol 3-monophosphate and phosphatidylinositol 3,5 bisphosphate. Members of this family are mutated in genetic diseases including myotubularin 1 (MTM1) and myotubularin-related protein 2 (MTMR2) which mutations are responsible of X-linked centronuclear myopathy and Charcot-Marie-Tooth neuropathy, respectively...
May 4, 2016: Biochemical and Biophysical Research Communications
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