{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:26:44Z","timestamp":1792168004202,"version":"4.4.0"},"reference-count":143,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"vor","delay-in-days":105,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["T32 DK067872"],"award-info":[{"award-number":["T32 DK067872"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["T32 AR007592"],"award-info":[{"award-number":["T32 AR007592"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007496","name":"VA Biomedical Laboratory Research and Development","doi-asserted-by":"publisher","award":["BX004890"],"award-info":[{"award-number":["BX004890"]}],"id":[{"id":"10.13039\/100007496","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","cmghjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cellular and Molecular Gastroenterology and Hepatology"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1016\/j.jcmgh.2025.101522","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T03:02:19Z","timestamp":1745290939000},"page":"101522","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function"],"prefix":"10.1016","volume":"19","author":[{"given":"Aishwarya","family":"Iyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline","family":"Alizadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer Megan","family":"Mariano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aikaterini","family":"Kontrogianni-Konstantopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Raufman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jcmgh.2025.101522_bib1","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1056\/NEJMoa2215643","article-title":"CRISPR-Cas9 editing of the HBG1 and HBG2 promoters to treat sickle cell disease","volume":"389","author":"Sharma","year":"2023","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jcmgh.2025.101522_bib2","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.pmr.2008.06.001","article-title":"Anatomy and physiology of feeding and swallowing: normal and abnormal","volume":"19","author":"Matsuo","year":"2008","journal-title":"Phys Med Rehabil Clin N Am"},{"key":"10.1016\/j.jcmgh.2025.101522_bib3","doi-asserted-by":"crossref","first-page":"357","DOI":"10.3233\/JND-150122","article-title":"Feeding and swallowing disorders in pediatric neuromuscular diseases: an overview","volume":"2","author":"van den Engel-Hoek","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.jcmgh.2025.101522_bib4","series-title":"Laryngopharyngeal reflux. StatPearls","author":"Brown","year":"2023"},{"key":"10.1016\/j.jcmgh.2025.101522_bib5","series-title":"Physiology, Defecation. StatPearls","author":"Mawer","year":"2023"},{"key":"10.1016\/j.jcmgh.2025.101522_bib6","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1007\/s11605-015-2905-1","article-title":"Fecal incontinence: etiology, diagnosis, and management","volume":"19","author":"Alavi","year":"2015","journal-title":"J Gastrointest Surg"},{"key":"10.1016\/j.jcmgh.2025.101522_bib7","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/0016-5085(91)90212-4","article-title":"The anal sphincter in patients with myotonic muscular dystrophy","volume":"100","author":"Eckardt","year":"1991","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib8","first-page":"88","article-title":"Faecal incontinence due to atrophy of the anal sphincter in myotonic dystrophy: a case report","volume":"74","author":"Degraeuwe","year":"2011","journal-title":"Acta Gastroenterol Belg"},{"issue":"1 Suppl 1","key":"10.1016\/j.jcmgh.2025.101522_bib9","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1053\/j.gastro.2003.10.013","article-title":"Pathophysiology of adult fecal incontinence","volume":"126","author":"Rao","year":"2004","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib10","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0959-440X(97)80033-4","article-title":"Architecture and function in the muscle sarcomere","volume":"7","author":"Squire","year":"1997","journal-title":"Curr Opin Struct Biol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib11","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/ana.1080","article-title":"Nemaline myopathy: a clinical study of 143 cases","volume":"50","author":"Ryan","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib12","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.spen.2011.10.008","article-title":"Congenital fiber-type disproportion","volume":"18","author":"Clarke","year":"2011","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib13","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1002\/humu.23760","article-title":"Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis","volume":"40","author":"Shashi","year":"2019","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jcmgh.2025.101522_bib14","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ana.25494","article-title":"Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy","volume":"86","author":"Stavusis","year":"2019","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib15","article-title":"Myosin binding protein-C: a regulator of actomyosin interaction in striated muscle","volume":"2011","author":"Ackermann","year":"2011","journal-title":"J Biomed Biotechnol"},{"issue":"Pt 1","key":"10.1016\/j.jcmgh.2025.101522_bib16","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1242\/jcs.109.1.101","article-title":"The carboxyl terminus of myosin binding protein C (MyBP-C, C-protein) specifies incorporation into the A-band of striated muscle","volume":"109","author":"Gilbert","year":"1996","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jcmgh.2025.101522_bib17","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ppedcard.2011.02.003","article-title":"The costamere bridges sarcomeres to the sarcolemma in striated muscle","volume":"31","author":"Peter","year":"2011","journal-title":"Prog Pediatr Cardiol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib18","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s00401-012-1057-6","article-title":"Desminopathies: pathology and mechanisms","volume":"125","author":"Clemen","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib19","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/978-0-387-84847-1_11","article-title":"Intermediate filament diseases: desminopathy","volume":"642","author":"Goldfarb","year":"2008","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib20","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.nmd.2007.02.009","article-title":"Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene","volume":"17","author":"Olive","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib21","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s12551-020-00610-x","article-title":"Excitation-contraction coupling in skeletal muscle: recent progress and unanswered questions","volume":"12","author":"Shishmarev","year":"2020","journal-title":"Biophys Rev"},{"key":"10.1016\/j.jcmgh.2025.101522_bib22","article-title":"A rare case of severe congenital RYR1-associated myopathy","volume":"2018","author":"Laforgia","year":"2018","journal-title":"Case Rep Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib23","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1146\/annurev-physiol-020518-114310","article-title":"Maintenance of skeletal muscle mitochondria in health, exercise, and aging","volume":"81","author":"Hood","year":"2019","journal-title":"Annu Rev Physiol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib24","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/978-90-481-2813-6_10","article-title":"Pathogenesis and treatment of mitochondrial disorders","volume":"652","author":"DiMauro","year":"2009","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib25","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13052-017-0419-z","article-title":"Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools","volume":"43","author":"Cassandrini","year":"2017","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.jcmgh.2025.101522_bib26","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.nmd.2021.07.012","article-title":"Recent advances in nemaline myopathy","volume":"31","author":"Laitila","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib28","article-title":"Pneumatosis cystoides intestinalis in muscular dystrophy and congenital myopathies: a report of five cases","volume":"16","author":"Aihara","year":"2024","journal-title":"Cureus"},{"key":"10.1016\/j.jcmgh.2025.101522_bib30","doi-asserted-by":"crossref","DOI":"10.3390\/ijms222111377","article-title":"Common pathogenic mechanisms in centronuclear and myotubular myopathies and latest treatment advances","volume":"22","author":"Gomez-Oca","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jcmgh.2025.101522_bib127","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1542\/peds.81.1.111","article-title":"Gastroesophageal reflux associated with nemaline myopathy of infancy","volume":"81","author":"Berezin","year":"1988","journal-title":"Pediatrics"},{"key":"10.1016\/j.jcmgh.2025.101522_bib31","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(99)00073-5","article-title":"A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy","volume":"10","author":"Hammans","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib90","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/S0022-3476(99)70417-8","article-title":"Medical complications in long-term survivors with X-linked myotubular myopathy","volume":"134","author":"Herman","year":"1999","journal-title":"J Pediatr"},{"key":"10.1016\/j.jcmgh.2025.101522_bib128","first-page":"34","article-title":"[A case of X-linked myotubular myopathy with chylothorax]","volume":"48","author":"Oishi","year":"2016","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.jcmgh.2025.101522_bib34","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/0022-510X(80)90050-7","article-title":"Clinical variability in congenital fiber type disproportion","volume":"46","author":"Clancy","year":"1980","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jcmgh.2025.101522_bib35","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/ana.21308","article-title":"Mutations in TPM3 are a common cause of congenital fiber type disproportion","volume":"63","author":"Clarke","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib36","doi-asserted-by":"crossref","DOI":"10.1111\/ped.15061","article-title":"A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation","volume":"64","author":"Shiraishi","year":"2022","journal-title":"Pediatr Int"},{"key":"10.1016\/j.jcmgh.2025.101522_bib37","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1001\/jamaneurol.2023.0818","article-title":"Ultrasonography of muscle vibration caused by MYBPC1 variant","volume":"80","author":"Zhao","year":"2023","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib38","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.pediatrneurol.2023.06.002","article-title":"A case series of patients with MYBPC1 gene variants featuring undulating tongue movements as myogenic tremor","volume":"146","author":"Uneoka","year":"2023","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib39","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2023.122864","article-title":"Congenital tremor and myopathy secondary to novel MYBPC1 variant","volume":"457","author":"Leduc-Pessah","year":"2024","journal-title":"J Neurol Sci"},{"issue":"Suppl 4 Suppl 4","key":"10.1016\/j.jcmgh.2025.101522_bib41","doi-asserted-by":"crossref","first-page":"40","DOI":"10.2106\/JBJS.I.00281","article-title":"Arthrogryposis: a review and update","volume":"91","author":"Bamshad","year":"2009","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.jcmgh.2025.101522_bib42","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1093\/hmg\/ddp587","article-title":"Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1","volume":"19","author":"Gurnett","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib43","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R","article-title":"Distal arthrogryposis type 1: clinical analysis of a large kindred","volume":"65","author":"Bamshad","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib44","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1542\/peds.2005-1219","article-title":"Clinical characteristics and natural history of Freeman-Sheldon syndrome","volume":"117","author":"Stevenson","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.jcmgh.2025.101522_bib45","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1750-1172-4-11","article-title":"Sheldon-Hall syndrome","volume":"4","author":"Toydemir","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jcmgh.2025.101522_bib46","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.ajhg.2014.03.015","article-title":"Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5","volume":"94","author":"McMillin","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib47","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1601-0825.2005.01005.x","article-title":"Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review","volume":"11","author":"Carlos","year":"2005","journal-title":"Oral Dis"},{"key":"10.1016\/j.jcmgh.2025.101522_bib48","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2024.148339","article-title":"Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations","volume":"910","author":"Iyer","year":"2024","journal-title":"Gene"},{"key":"10.1016\/j.jcmgh.2025.101522_bib129","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/01202412-199707000-00002","article-title":"Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects","volume":"6","author":"Hall","year":"1997","journal-title":"J Pediatr Orthop B"},{"key":"10.1016\/j.jcmgh.2025.101522_bib49","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1177\/1756283X16666806","article-title":"Gastrointestinal manifestations of mitochondrial disorders: a systematic review","volume":"10","author":"Finsterer","year":"2017","journal-title":"Therap Adv Gastroenterol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib93","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/S0016-5085(99)70080-6","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: manometric and diagnostic features","volume":"116","author":"Mueller","year":"1999","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib94","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.nmd.2022.05.006","article-title":"Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series","volume":"32","author":"Watson-Fargie","year":"2022","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib98","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.2353\/ajpath.2008.080252","article-title":"Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion","volume":"173","author":"Giordano","year":"2008","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib130","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s00415-015-7884-3","article-title":"Mitochondrial disease: genetics and management","volume":"263","author":"Ng","year":"2016","journal-title":"J Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib131","series-title":"GeneReviews","article-title":"Mitochondrial DNA deletion syndromes","author":"Goldstein","year":"1993"},{"key":"10.1016\/j.jcmgh.2025.101522_bib132","series-title":"GeneReviews","article-title":"Mitochondrial neurogastrointestinal encephalopathy disease","author":"Hirano","year":"1993"},{"key":"10.1016\/j.jcmgh.2025.101522_bib55","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.bbacli.2016.11.004","article-title":"A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects alphaB-crystallin structure","volume":"7","author":"Fichna","year":"2017","journal-title":"BBA Clin"},{"key":"10.1016\/j.jcmgh.2025.101522_bib56","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.nmd.2011.07.004","article-title":"A novel CRYAB mutation resulting in multisystemic disease","volume":"22","author":"Sacconi","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib57","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/s12192-017-0866-x","article-title":"The role of alphaB-crystallin in skeletal and cardiac muscle tissues","volume":"23","author":"Dimauro","year":"2018","journal-title":"Cell Stress Chaperones"},{"key":"10.1016\/j.jcmgh.2025.101522_bib133","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.3390\/molecules27031147","article-title":"Alpha B-crystallin in muscle disease prevention: the role of physical activity","volume":"27","author":"Dimauro","year":"2022","journal-title":"Molecules"},{"issue":"Pt 10","key":"10.1016\/j.jcmgh.2025.101522_bib58","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1093\/brain\/awh576","article-title":"Myotilinopathy: refining the clinical and myopathological phenotype","volume":"128","author":"Olive","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.jcmgh.2025.101522_bib59","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.nmd.2006.04.009","article-title":"Myotilinopathy in a family with late onset myopathy","volume":"16","author":"Penisson-Besnier","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib134","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.ncl.2014.04.008","article-title":"A pattern recognition approach to patients with a suspected myopathy","volume":"32","author":"Barohn","year":"2014","journal-title":"Neurol Clin"},{"key":"10.1016\/j.jcmgh.2025.101522_bib61","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.jcmgh.2025.101522_bib63","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.3109\/09638288.2015.1111434","article-title":"Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management","volume":"38","author":"Toussaint","year":"2016","journal-title":"Disabil Rehabil"},{"key":"10.1016\/j.jcmgh.2025.101522_bib64","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.anl.2022.07.006","article-title":"Bedside evaluation of swallowing function to predict aspiration pneumonia in Duchenne muscular dystrophy","volume":"50","author":"Kawamoto-Hirano","year":"2023","journal-title":"Auris Nasus Larynx"},{"key":"10.1016\/j.jcmgh.2025.101522_bib135","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1038\/s41431-022-01138-2","article-title":"Incidence of Duchenne muscular dystrophy in the modern era; an Australian study","volume":"30","author":"Kariyawasam","year":"2022","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib65","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1080\/09638288.2017.1298680","article-title":"A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy","volume":"40","author":"Yamada","year":"2018","journal-title":"Disabil Rehabil"},{"key":"10.1016\/j.jcmgh.2025.101522_bib66","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mus.26771","article-title":"Orofacial muscles may be affected in early stages of Becker muscular dystrophy: a preliminary study","volume":"61","author":"Lagarde","year":"2020","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jcmgh.2025.101522_bib136","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","article-title":"Population frequencies of inherited neuromuscular diseases--a world survey","volume":"1","author":"Emery","year":"1991","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib67","first-page":"291","article-title":"Oculopharyngeal muscular dystrophy as a rare cause of dysphagia","volume":"28","author":"Werling","year":"2015","journal-title":"Ann Gastroenterol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib91","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1007\/s00455-011-9356-y","article-title":"Cricopharyngeal dilatation for the long-term treatment of dysphagia in oculopharyngeal muscular dystrophy","volume":"27","author":"Manjaly","year":"2012","journal-title":"Dysphagia"},{"key":"10.1016\/j.jcmgh.2025.101522_bib137","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.nmd.2013.03.001","article-title":"191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands","volume":"23","author":"Raz","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib138","doi-asserted-by":"crossref","first-page":"e1475","DOI":"10.1212\/WNL.0000000000012640","article-title":"Longitudinal assessment of strength, functional capacity, oropharyngeal function, and quality of life in oculopharyngeal muscular dystrophy","volume":"97","author":"Kroon","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib70","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1212\/CON.0000000000000793","article-title":"Myotonic muscular dystrophies","volume":"25","author":"Johnson","year":"2019","journal-title":"Continuum (Minneap Minn)"},{"key":"10.1016\/j.jcmgh.2025.101522_bib71","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1212\/WNL.0000000000004420","article-title":"High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2","volume":"89","author":"Hilbert","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib72","first-page":"42","article-title":"Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool","volume":"33","author":"LaDonna","year":"2011","journal-title":"Can J Neurosci Nurs"},{"key":"10.1016\/j.jcmgh.2025.101522_bib74","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.3748\/wjg.v12.i12.1821","article-title":"Gastrointestinal manifestations in myotonic muscular dystrophy","volume":"12","author":"Bellini","year":"2006","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib96","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/ccr3.256","article-title":"Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child","volume":"3","author":"Glaser","year":"2015","journal-title":"Clin Case Rep"},{"key":"10.1016\/j.jcmgh.2025.101522_bib97","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1136\/jmg.29.11.791","article-title":"Intestinal pseudo-obstruction in myotonic dystrophy","volume":"29","author":"Brunner","year":"1992","journal-title":"J Med Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib139","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.nmd.2006.03.010","article-title":"140th ENMC International Workshop: myotonic dystrophy DM2\/PROMM and other myotonic dystrophies with guidelines on management","volume":"16","author":"Udd","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib140","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.nmd.2008.05.010","article-title":"Gastrointestinal involvement is frequent in myotonic dystrophy type 2","volume":"18","author":"Tieleman","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib141","doi-asserted-by":"crossref","first-page":"e1045","DOI":"10.1212\/WNL.0000000000011425","article-title":"Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program","volume":"96","author":"Johnson","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib142","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1159\/000522476","article-title":"Sigmoid volvulus in myotonic dystrophy type I (Steinert disease)","volume":"16","author":"Bayoumy","year":"2022","journal-title":"Case Rep Gastroenterol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib143","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/S1590-8658(02)80106-2","article-title":"Gastric emptying in myotonic dystrophic patients","volume":"34","author":"Bellini","year":"2002","journal-title":"Dig Liver Dis"},{"key":"10.1016\/j.jcmgh.2025.101522_bib77","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1212\/01.wnl.0000219760.76441.f8","article-title":"Dysphagia in facioscapulohumeral muscular dystrophy","volume":"66","author":"Wohlgemuth","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib79","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s13311-018-00675-3","article-title":"Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments","volume":"15","author":"Hamel","year":"2018","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.jcmgh.2025.101522_bib80","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/mus.22041","article-title":"Progressive dysphagia in limb-girdle muscular dystrophy type 2B","volume":"43","author":"Walsh","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jcmgh.2025.101522_bib81","first-page":"221","article-title":"LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation","volume":"37","author":"Bohlega","year":"2018","journal-title":"Acta Myol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib82","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.840683","article-title":"LGMD D2 TNPO3-related: from clinical spectrum to pathogenetic mechanism","volume":"13","author":"Costa","year":"2022","journal-title":"Front Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib83","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1038\/ng.995","article-title":"Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)","volume":"43","author":"Logan","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib84","first-page":"111","article-title":"Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course","volume":"41","author":"Croci","year":"2022","journal-title":"Acta Myol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib85","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s10048-012-0315-z","article-title":"Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores","volume":"13","author":"Boyden","year":"2012","journal-title":"Neurogenetics"},{"key":"10.1016\/j.jcmgh.2025.101522_bib86","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.nmd.2017.09.017","article-title":"MEGF10 related myopathies: a new case with adult onset disease with prominent respiratory failure and review of reported phenotypes","volume":"28","author":"Harris","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib87","doi-asserted-by":"crossref","first-page":"e1500","DOI":"10.1212\/WNL.0000000000010237","article-title":"ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features","volume":"95","author":"Saito","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib88","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/ana.24550","article-title":"ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy","volume":"79","author":"Park","year":"2016","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib89","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.nmd.2020.02.006","article-title":"Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients","volume":"30","author":"Mroczek","year":"2020","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jcmgh.2025.101522_bib27","first-page":"1204","article-title":"Clinical course of dysphagia in patients with nemaline myopathy","volume":"9","author":"Yoo","year":"2022","journal-title":"Children (Basel)"},{"key":"10.1016\/j.jcmgh.2025.101522_bib29","first-page":"576","article-title":"Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I","volume":"50","author":"Laing","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib32","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1212\/WNL.0b013e3182900380","article-title":"Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum","volume":"80","author":"Bharucha-Goebel","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib33","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1007\/s00424-010-0794-4","article-title":"Ryanodine receptor channelopathies","volume":"460","author":"Betzenhauser","year":"2010","journal-title":"Pflugers Arch"},{"key":"10.1016\/j.jcmgh.2025.101522_bib40","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.147612","article-title":"Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor","volume":"6","author":"Geist Hauserman","year":"2021","journal-title":"JCI Insight"},{"key":"10.1016\/j.jcmgh.2025.101522_bib50","series-title":"GeneReviews","article-title":"Single large-scale mitochondrial DNA deletion syndromes","author":"Goldstein","year":"1993"},{"key":"10.1016\/j.jcmgh.2025.101522_bib51","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1212\/WNL.56.10.1409","article-title":"Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions","volume":"56","author":"Kornblum","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib52","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/0022-510X(95)00290-I","article-title":"Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome","volume":"135","author":"Kapeller","year":"1996","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jcmgh.2025.101522_bib53","first-page":"467","article-title":"Fine-structure changes in achalasia of esophagus. II. Esophageal smooth muscle","volume":"46","author":"Cassella","year":"1965","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib54","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1002\/humu.20351","article-title":"Variable pathogenic potentials of mutations located in the desmin alpha-helical domain","volume":"27","author":"Goudeau","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jcmgh.2025.101522_bib60","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0140-6736(02)07815-7","article-title":"The muscular dystrophies","volume":"359","author":"Emery","year":"2002","journal-title":"Lancet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib62","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Aartsma-Rus","year":"2006","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jcmgh.2025.101522_bib68","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1186\/1757-1626-2-94","article-title":"Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report","volume":"2","author":"Bumm","year":"2009","journal-title":"Cases J"},{"key":"10.1016\/j.jcmgh.2025.101522_bib69","doi-asserted-by":"crossref","first-page":"4230","DOI":"10.1111\/febs.12294","article-title":"PABPN1: molecular function and muscle disease","volume":"280","author":"Banerjee","year":"2013","journal-title":"FEBS J"},{"key":"10.1016\/j.jcmgh.2025.101522_bib73","first-page":"249","article-title":"Swallowing dysfunction in myotonic dystrophy: a retrospective study of symptomatology and radiographic findings","volume":"11","author":"Willaert","year":"2015","journal-title":"B-ENT"},{"key":"10.1016\/j.jcmgh.2025.101522_bib75","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.bbadis.2014.05.019","article-title":"Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms","volume":"1852","author":"Meola","year":"2015","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jcmgh.2025.101522_bib76","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001181","article-title":"Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene","volume":"6","author":"Snider","year":"2010","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jcmgh.2025.101522_bib78","doi-asserted-by":"crossref","first-page":"e957","DOI":"10.1212\/WNL.0000000000007013","article-title":"Effects of weakness of orofacial muscles on swallowing and communication in FSHD","volume":"92","author":"Mul","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.jcmgh.2025.101522_bib92","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1007\/s00455-001-0064-x","article-title":"Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy","volume":"16","author":"Restivo","year":"2001","journal-title":"Dysphagia"},{"key":"10.1016\/j.jcmgh.2025.101522_bib95","doi-asserted-by":"crossref","DOI":"10.3390\/ijms232314779","article-title":"Clinical and molecular insights into gastrointestinal dysfunction in myotonic dystrophy types 1 & 2","volume":"23","author":"Peterson","year":"2022","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jcmgh.2025.101522_bib99","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.jaad.2019.06.1309","article-title":"Dermatomyositis: clinical features and pathogenesis","volume":"82","author":"DeWane","year":"2020","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib100","doi-asserted-by":"crossref","first-page":"4301","DOI":"10.3390\/ijms23084301","article-title":"Pathophysiological mechanisms and treatment of dermatomyositis and immune mediated necrotizing myopathies: a focused review","volume":"23","author":"Kamperman","year":"2022","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jcmgh.2025.101522_bib101","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1365-2036.2009.04190.x","article-title":"Review article: the gastrointestinal complications of myositis","volume":"31","author":"Ebert","year":"2010","journal-title":"Aliment Pharmacol Ther"},{"key":"10.1016\/j.jcmgh.2025.101522_bib102","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s12016-015-8510-y","article-title":"A comprehensive overview on myositis-specific antibodies: new and old biomarkers in idiopathic inflammatory myopathy","volume":"52","author":"Satoh","year":"2017","journal-title":"Clin Rev Allergy Immunol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib103","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1136\/annrheumdis-2016-209247","article-title":"Consensus-based recommendations for the management of juvenile dermatomyositis","volume":"76","author":"Bellutti Enders","year":"2017","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jcmgh.2025.101522_bib104","doi-asserted-by":"crossref","first-page":"143","DOI":"10.7326\/0003-4819-111-2-143","article-title":"Current concepts in the idiopathic inflammatory myopathies: polymyositis, dermatomyositis, and related disorders","volume":"111","author":"Plotz","year":"1989","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jcmgh.2025.101522_bib105","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.3390\/diagnostics12051200","article-title":"Gastrointestinal involvement in dermatomyositis","volume":"12","author":"Matas-Garcia","year":"2022","journal-title":"Diagnostics (Basel)"},{"key":"10.1016\/j.jcmgh.2025.101522_bib106","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1097\/00002281-200211000-00005","article-title":"Clinical outcomes in juvenile dermatomyositis","volume":"14","author":"Ramanan","year":"2002","journal-title":"Curr Opin Rheumatol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib107","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s40257-020-00502-6","article-title":"Dermatomyositis: an update on diagnosis and treatment","volume":"21","author":"Cobos","year":"2020","journal-title":"Am J Clin Dermatol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib108","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1007\/s11910-012-0321-4","article-title":"Inclusion body myositis","volume":"13","author":"Dimachkie","year":"2013","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.jcmgh.2025.101522_bib109","doi-asserted-by":"crossref","first-page":"465","DOI":"10.2147\/IJGM.S198031","article-title":"Dysphagia in patients with sporadic inclusion body myositis: management challenges","volume":"12","author":"Mohannak","year":"2019","journal-title":"Int J Gen Med"},{"key":"10.1016\/j.jcmgh.2025.101522_bib110","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1097\/PHM.0b013e31818a50e2","article-title":"Dysphagia in inclusion body myositis: clinical features, management, and clinical outcome","volume":"87","author":"Oh","year":"2008","journal-title":"Am J Phys Med Rehabil"},{"key":"10.1016\/j.jcmgh.2025.101522_bib111","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1128\/CMR.00001-08","article-title":"Bacterial, fungal, parasitic, and viral myositis","volume":"21","author":"Crum-Cianflone","year":"2008","journal-title":"Clin Microbiol Rev"},{"key":"10.1016\/j.jcmgh.2025.101522_bib112","doi-asserted-by":"crossref","DOI":"10.1111\/bpa.12950","article-title":"Infective myositis","volume":"31","author":"Narayanappa","year":"2021","journal-title":"Brain Pathol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib113","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1016\/j.berh.2006.08.005","article-title":"Infection and musculoskeletal conditions: infectious myositis","volume":"20","author":"Crum-Cianflone","year":"2006","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib114","article-title":"Research on Trypanosoma cruzi and analysis of inflammatory infiltrate in esophagus and colon from chronic chagasic patients with and without mega","volume":"2012","author":"Cobo Ede","year":"2012","journal-title":"J Trop Med"},{"key":"10.1016\/j.jcmgh.2025.101522_bib115","first-page":"273","article-title":"Eosinophilic myositis resulting from sarcocystosis","volume":"98","author":"Van den Enden","year":"1995","journal-title":"J Trop Med Hyg"},{"key":"10.1016\/j.jcmgh.2025.101522_bib116","article-title":"Chloroquine and hydroxychloroquine myopathy: clinical spectrum and treatment outcomes","volume":"11","author":"Naddaf","year":"2020","journal-title":"Front Neurol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib117","first-page":"544","article-title":"[Statin-induced dysphagia]","volume":"172","author":"Edholm","year":"2010","journal-title":"Ugeskr Laeger"},{"key":"10.1016\/j.jcmgh.2025.101522_bib118","doi-asserted-by":"crossref","DOI":"10.4172\/2161-1149.1000229","article-title":"Oropharyngeal dysphagia: rare presenting symptom of statin-induced HMG CoA reductase necrotizing autoimmune myopathy","volume":"7","author":"Bhatt","year":"2017","journal-title":"Rheumatol Curr Res"},{"key":"10.1016\/j.jcmgh.2025.101522_bib119","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0950-3579(05)80294-8","article-title":"Drug-induced myopathies","volume":"5","author":"Le Quintrec","year":"1991","journal-title":"Baillieres Clin Rheumatol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib120","doi-asserted-by":"crossref","first-page":"2834","DOI":"10.3748\/wjg.15.2834","article-title":"Consequences of dysthyroidism on the digestive tract and viscera","volume":"15","author":"Daher","year":"2009","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.jcmgh.2025.101522_bib121","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s00455-003-0510-z","article-title":"Dysphagia as a manifestation of thyrotoxicosis: report of three cases and literature review","volume":"19","author":"Chiu","year":"2004","journal-title":"Dysphagia"},{"key":"10.1016\/j.jcmgh.2025.101522_bib122","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1096\/fj.201801209R","article-title":"Gut microbiome catabolites as novel modulators of muscle cell glucose metabolism","volume":"33","author":"Houghton","year":"2019","journal-title":"FASEB J"},{"key":"10.1016\/j.jcmgh.2025.101522_bib123","article-title":"Gut microbiota can transfer fiber characteristics and lipid metabolic profiles of skeletal muscle from pigs to germ-free mice","volume":"6","author":"Yan","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.jcmgh.2025.101522_bib124","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s00223-017-0345-5","article-title":"Gut microbiota contribute to age-related changes in skeletal muscle size, composition, and function: biological basis for a gut-muscle axis","volume":"102","author":"Grosicki","year":"2018","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.jcmgh.2025.101522_bib125","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aan5662","article-title":"The gut microbiota influences skeletal muscle mass and function in mice","volume":"11","author":"Lahiri","year":"2019","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jcmgh.2025.101522_bib126","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.3389\/fphys.2019.01435","article-title":"The role of the gut microbiome on skeletal muscle mass and physical function: 2019 update","volume":"10","author":"Lustgarten","year":"2019","journal-title":"Front Physiol"}],"container-title":["Cellular and Molecular Gastroenterology and Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352345X25000633?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352345X25000633?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T21:13:42Z","timestamp":1752614022000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352345X25000633"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":143,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025]]}},"alternative-id":["S2352345X25000633"],"URL":"https:\/\/doi.org\/10.1016\/j.jcmgh.2025.101522","relation":{},"ISSN":["2352-345X"],"issn-type":[{"value":"2352-345X","type":"print"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function","name":"articletitle","label":"Article Title"},{"value":"Cellular and Molecular Gastroenterology and Hepatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jcmgh.2025.101522","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of the AGA Institute.","name":"copyright","label":"Copyright"}],"article-number":"101522"}}