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For: Bellini M, Biagi S, Stasi C, Costa F, Mumolo MG, Ricchiuti A, Marchi S. Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol 2006; 12(12): 1821-1828 [PMID: 16609987 DOI: 10.3748/wjg.v12.i12.1821]
URL: https://www.wjgnet.com/1007-9327/full/v12/i12/1821.htm
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Aishwarya Iyer, Madeline Alizadeh, Jennifer Megan Mariano, Aikaterini Kontrogianni-Konstantopoulos, Jean-Pierre Raufman. The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function. Cellular and Molecular Gastroenterology and Hepatology 2025; 19(8) doi: 10.1016/j.jcmgh.2025.101522
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Guillaume Paris, Eric Verin, Anne-Marie Leroi, Guillaume Gourcerol. Oesophageal motility impairment in type I myotonic dystrophy: Usefulness of high resolution manometry. Digestive and Liver Disease 2012; 44(5) doi: 10.1016/j.dld.2011.11.006
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Anusha Jayaraman, Sven Pettersson. When dysbiosis meets dystrophy: an unwanted gut‐muscle connection. EMBO Molecular Medicine 2023; 15(3) doi: 10.15252/emmm.202217324
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Pravarshini Datla , Sowmya Gopalan, Preetam Arthur. Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease. Cureus 2025;  doi: 10.7759/cureus.93615
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Sonoko Nozaki. Myotonic Dystrophy. 2018;  doi: 10.1007/978-981-13-0508-5_11
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M. Jungheim, D. Kühn, M. Ptok. Hochauflösungsmanometrische Untersuchung der pharyngealen Funktion bei myotoner Dystrophie. Der Nervenarzt 2015; 86(8) doi: 10.1007/s00115-015-4397-3
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Carolina Malagelada, Matteo Guarino, Elena Bonora, Lisa Lungaro, Giovanni Barbara, Vincenzo Stanghellini, Roberto De Giorgio. Clinical presentation, diagnosis and management of chronic intestinal and colonic pseudo-obstruction in neurological diseases. Autonomic Neuroscience 2026; 268 doi: 10.1016/j.autneu.2026.103473
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Cheryl de Silva, Venkat Subramaniam, Mitchell R. Price, Richard Sidlow. Transverse colonic volvulus in a 16-year-old female with congenital myotonic dystrophy: A case report. Journal of Pediatric Surgery Case Reports 2015; 3(8) doi: 10.1016/j.epsc.2015.06.007
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Agata Oliwa, Clarissa Hocking, Mark J Hamilton, John McLean, Sarah Cumming, Bob Ballantyne, Ravi Jampana, Cheryl Longman, Darren G Monckton, Maria Elena Farrugia. Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. Neuromuscular Disorders 2022; 32(11-12) doi: 10.1016/j.nmd.2022.09.005
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Sofya A. Ionova, Aysylu F. Murtazina, Andrey A. Marakhonov, Olga A. Shchagina, Nina V. Ryadninskaya, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko. The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania. International Journal of Molecular Sciences 2024; 25(17) doi: 10.3390/ijms25179734
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Suzanne G. M. van Hees, Simone Knuijt, Heleen Dicke, Jan T. Groothuis, Joost Raaphorst, Ton Satink, Edith H. C. Cup. Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study. Disability and Rehabilitation 2020; 42(11) doi: 10.1080/09638288.2018.1528305
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Shaikh Farhad Hossain, Ming Huang, Naoaki Ono, Aki Morita, Shigehiko Kanaya, Md Altaf-Ul-Amin. Development of a biomarker database toward performing disease classification and finding disease interrelations. Database 2021; 2021 doi: 10.1093/database/baab011
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Manijeh Mahdavi, Tae-Yeon Kim, Karine Prévost, Philippe Balthazar, Valérie Gagné-Ouellet, Isabelle Fissette-Paul Hus, Élise Duchesne, Séréna Harvey, Cynthia Gagnon, Isabelle Laforest-Lapointe, Nicolas A. Dumont, Eric Massé. Influence of CTG repeats from the human DM1 locus on murine gut microbiota. Computational and Structural Biotechnology Journal 2025; 27 doi: 10.1016/j.csbj.2025.02.016
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Sylvia Nieuwenhuis, Joanna Widomska, Paul Blom, Peter-Bram A. C. ‘t Hoen, Baziel G. M. van Engelen, Jeffrey C. Glennon. Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1). International Journal of Molecular Sciences 2022; 23(6) doi: 10.3390/ijms23063081
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John E Pascoe, Alexander Zygmunt, Zarmina Ehsan, Neepa Gurbani. Sleep in pediatric neuromuscular disorders. Seminars in Pediatric Neurology 2023; 48 doi: 10.1016/j.spen.2023.101092
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Carolina Malagelada. Encyclopedia of Gastroenterology. 2020;  doi: 10.1016/B978-0-12-801238-3.66000-2
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Janel A. M. Peterson, Thomas A. Cooper. Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2. International Journal of Molecular Sciences 2022; 23(23) doi: 10.3390/ijms232314779
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Annah S. Rolig, Erika K. Mittge, Julia Ganz, Josh V. Troll, Ellie Melancon, Travis J. Wiles, Kristin Alligood, W. Zac Stephens, Judith S. Eisen, Karen Guillemin, Jeff Gore. The enteric nervous system promotes intestinal health by constraining microbiota composition. PLOS Biology 2017; 15(2) doi: 10.1371/journal.pbio.2000689
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Amber C. Louprasong, Dennis J. Light, Rebecca S. Diller. Spider dystrophy as an ocular manifestation of myotonic dystrophy. Optometry - Journal of the American Optometric Association 2010; 81(4) doi: 10.1016/j.optm.2009.08.013
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Kimberly DiCuccio Heckert, Robert S. Skerker. Atypical Presentation of Myotonic Dystrophy Type 1. PM&R 2011; 3(4) doi: 10.1016/j.pmrj.2010.10.002
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Yuhei Hasuike, Hideki Mochizuki, Masayuki Nakamori. Cellular Senescence and Aging in Myotonic Dystrophy. International Journal of Molecular Sciences 2022; 23(4) doi: 10.3390/ijms23042339
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Nicholas L Harrison, Giovanni Santoro, Nicolas Ellerby, Ajai Samad. Small bowel obstruction secondary to phytobezoar in a patient with myotonic dystrophy. BMJ Case Reports 2023; 16(10) doi: 10.1136/bcr-2023-255895
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Luis Gerardo Alcalá-González, Alba Jimenez-Masip, Lucia Relea-Pérez, Claudia Barber-Caselles, Elizabeth Barba-Orozco. Underlying etiology associated with the diagnosis of absent contractility on high resolution esophageal manometry. Gastroenterología y Hepatología 2023; 46(1) doi: 10.1016/j.gastrohep.2022.03.003
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R. Cardani, E. Mancinelli, G. Saino, L. Bonavina, G. Meola. A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. Neuromuscular Disorders 2008; 18(8) doi: 10.1016/j.nmd.2008.06.366
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Josef Finsterer, Fulvio A. Scorza, Ana C. Fiorini, Carla A. Scorza. Affection of the Gastrointestinal Smooth Muscles in Myotonic Dystrophy Is Not Unusual. Internal Medicine 2020; 59(6) doi: 10.2169/internalmedicine.3931-19
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Vidosava Rakocevic-Stojanovic, Stojan Peric, Ivana Basta, Valerija Dobricic, Vesna Ralic, Aleksandra Kacar, Marina Peric, Ivana Novakovic. Variability of multisystemic features in myotonic dystrophy type 1 – lessons from Serbian registry. Neurological Research 2015; 37(11) doi: 10.1179/1743132815Y.0000000068
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Tomonori Kambayashi, Ai Hirano-Kawamoto, Toshiaki Takahashi, Sayaka Taniguchi, Masaru Yoshioka, Hiroyasu Tanaka, Hideki Oizumi, Tomoko Totsune, Saki Oshiro, Toru Baba, Atsushi Takeda, Takuma Hisaoka, Jun Ohta, Ryoukichi Ikeda, Jun Suzuki, Kengo Kato, Yukio Katori. The characteristics of dysphagia and the incidence of pneumonia in Myotonic dystrophy type 1 patients especially concerning swallowing function evaluated by endoscopy. Auris Nasus Larynx 2022; 49(6) doi: 10.1016/j.anl.2022.04.003
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Myotonia: Are We Underestimating the Burden in Myotonic Disorders?. EMJ Neurology 2024;  doi: 10.33590/emjneurol/FDOD3150
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Andrea M. Glaser, Jennifer H. Johnston, Wallace A. Gleason, J. Marc Rhoads. Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child. Clinical Case Reports 2015; 3(6) doi: 10.1002/ccr3.256
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Genevieve Ho, Michael Cardamone, Michelle Farrar. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World Journal of Clinical Pediatrics 2015; 4(4): 66-80 doi: 10.5409/wjcp.v4.i4.66
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Luis Gerardo Alcalá-González, Alba Jimenez-Masip, Lucia Relea-Pérez, Claudia Barber-Caselles, Elizabeth Barba-Orozco. Underlying etiology associated with the diagnosis of absent contractility on high resolution esophageal manometry. Gastroenterología y Hepatología (English Edition) 2023; 46(1) doi: 10.1016/j.gastre.2022.03.006
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Alessia Perna, Daria Maccora, Salvatore Rossi, Tommaso Filippo Nicoletti, Maria Assunta Zocco, Vittorio Riso, Anna Modoni, Antonio Petrucci, Venanzio Valenza, Antonio Grieco, Luca Miele, Gabriella Silvestri. High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study. Frontiers in Neurology 2020; 11 doi: 10.3389/fneur.2020.00394
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Isabelle Fisette-Paulhus, Cynthia Gagnon, Laura Girard-Côté, Mélanie Morin. Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice. Neuromuscular Disorders 2022; 32(5) doi: 10.1016/j.nmd.2022.01.008
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Antonio Corsello, Lorenzo Scatigno, Annalisa Govoni, Gianvincenzo Zuccotti, Frédéric Gottrand, Claudio Romano, Elvira Verduci. Gut dysmotility in children with neurological impairment: the nutritional management. Frontiers in Neurology 2023; 14 doi: 10.3389/fneur.2023.1200101
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Samantha LoRusso, Benjamin Weiner, W. David Arnold. Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. Neurotherapeutics 2018; 15(4) doi: 10.1007/s13311-018-00679-z
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D. S. H. Bovenkerk, C. E. W. Janssen, F. M. A. Van den Heuvel, I. B. T. Joosten, D. Den Uijl, B. G. M. Van Engelen, S. M. J. Van Kuijk, R. Nijveldt, R. Evertz, C. G. Faber, K. Vernooy, G. P. Bijvoet. Evaluation of echocardiography monitoring in myotonic dystrophy type 1 patients. Frontiers in Cardiovascular Medicine 2025; 12 doi: 10.3389/fcvm.2025.1574885
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Hiroki Sato, Ken-ichi Mizuno, Satoru Hashimoto, Masafumi Takatsuna, Shuji Terai. Secondary Achalasia in Myotonic Dystrophy May Have a Different Pathology and Management. Internal Medicine 2020; 59(6) doi: 10.2169/internalmedicine.3974-19
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David Feder, Mariana Ierardi, Ana Laura Covre, Giuliana Petri, Alzira Alves de Siqueira Carvalho, Fernando Luiz Affonso Fonseca, Bruno Machado Bertassoli. Evaluation of the gastrointestinal tract in mdx mice: an experimental model of Duchenne muscular dystrophy. APMIS 2018; 126(8) doi: 10.1111/apm.12864
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Amalia A. Franco‐Guerrero, Luz C. Márquez‐Quiroz, Víctor M. Valadéz‐Jiménez, Hernán Cortés, Nadia M. Murillo‐Melo, Balam Muñoz, Bulmaro Cisneros, Jonathan J. Magaña. Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. Muscle & Nerve 2019; 60(1) doi: 10.1002/mus.26485
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Raffaele Pezzilli, Paula A. Mauloni. Acute Pancreatitis Associated With Myotonic Dystrophy Type I. Pancreas 2019; 48(8) doi: 10.1097/MPA.0000000000001366
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Ramon Go, David Wang, Danielle Ludwin. Anesthetic Considerations in a Patient with Myotonic Dystrophy for Hip Labral Repair. Case Reports in Anesthesiology 2017; 2017 doi: 10.1155/2017/6408956
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Yuji Tanaka, Tomohiro Kato, Hiroshi Nishida, Megumi Yamada, Akihiro Koumura, Takeo Sakurai, Yuichi Hayashi, Akio Kimura, Isao Hozumi, Hiroshi Araki, Masahiko Murase, Masahito Nagaki, Hisataka Moriwaki, Takashi Inuzuka. Is there a difference in gastric emptying between myotonic dystrophy type 1 patients with and without gastrointestinal symptoms?. Journal of Neurology 2013; 260(6) doi: 10.1007/s00415-013-6842-1
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Kulpreet Singh, Gurpreet Randhwa, Fadi N. Salloum, John R. Grider, Karnam S. Murthy. Decreased smooth muscle function, peristaltic activity, and gastrointestinal transit in dystrophic (mdx) mice. Neurogastroenterology & Motility 2021; 33(2) doi: 10.1111/nmo.13968
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Nobuhiko Ogasawara, Kenichiro Sato, Michiko Tsutsumiuchi, Mami Kanzaki, Yoshikazu Uesaka. Steakhouse Syndrome in Myotonic Dystrophy. Internal Medicine 2017; 56(23) doi: 10.2169/internalmedicine.9185-17
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Ahamodur Choudhury, Abdul Rahyead, Jochen Kammermeier, Mohamed Mutalib. The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction. Pediatrics 2018; 141(Supplement_5) doi: 10.1542/peds.2017-0007
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Cristina Russo, Sofia Surdo, Maria Stella Valle, Lucia Malaguarnera. The Gut Microbiota Involvement in the Panorama of Muscular Dystrophy Pathogenesis. International Journal of Molecular Sciences 2024; 25(20) doi: 10.3390/ijms252011310
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Manijeh Mahdavi, Karine Prévost, Philippe Balthazar, Isabelle Fisette-Paul Hus, Élise Duchesne, Nicolas Dumont, Valérie Gagné-Ouellet, Cynthia Gagnon, Isabelle Laforest-Lapointe, Eric Massé. Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1. Computational and Structural Biotechnology Journal 2024; 23 doi: 10.1016/j.csbj.2024.05.009
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Paolo Usai-Satta, Massimo Bellini, Olivia Morelli, Francesca Geri, Mariantonia Lai, Gabrio Bassotti. Gastroparesis: New insights into an old disease. World Journal of Gastroenterology 2020; 26(19): 2333-2348 doi: 10.3748/wjg.v26.i19.2333
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Elena Pérez Campos, Ana Delgado Maroto, José López González. Retando a la propia enfermedad: acalasia esofágica de tipo II en paciente con distrofia miotónica de tipo I. Gastroenterología y Hepatología 2024; 47(3) doi: 10.1016/j.gastrohep.2023.06.003
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