{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:29Z","timestamp":1784555309856,"version":"3.55.0"},"reference-count":50,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The muscle weakness in patients with nemaline myopathy (NM) and related disorders (NMR) often affects the muscles used for eating and dining, and some scientific evidence of poorer nutritional status of patients with myopathy exists. However, comprehensive research on the nutritional status of persons with NM or NMR has not been done.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Our aim was to conduct a comprehensive cross-sectional pilot study among adult Finnish patients with NM or NMR to investigate their food consumption, nutrient intakes, selected nutrient-related laboratory parameters in blood, and self-assessed functioning of dining and eating and of the gastrointestinal tract. We also aimed to test the suitability of the methods selected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The methods included a questionnaire to investigate eating-related functioning, a food frequency questionnaire, food records, and laboratory analyses from blood samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 32 invited patients, 20 returned the survey and food frequency questionnaire. Food records were returned by 17, and blood samples were obtained from 16. Food consumption as well as nutrient and energy intake were highly variable between the individuals. Low energy intakes, low consumption of healthy foods, such as fruits, vegetables, and whole grains as well as low intakes of vitamin D, calcium, dietary fiber, vitamin C, folate, and iron were observed. Low nutrient intakes were seen especially in non-ambulatory participants, who also reported challenges in eating and dining related functioning. The laboratory parameters did not indicate severe undernourishment in any of the participants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Evaluation of food consumption and nutrient intakes were needed to find patients with risk of undernourishment. The results underline the importance of monitoring adequate intake of calcium and vitamin D in this group of patients, especially because of the immobility-induced risk of osteoporosis. Non-ambulatory patients reported more challenges in eating and dining. This, however, did not determine the nutritional status of the patient.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602241303374","type":"journal-article","created":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T12:34:19Z","timestamp":1738154059000},"page":"57-69","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8276-0972","authenticated-orcid":false,"given":"Vilma-Lotta","family":"Lehtokari","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland"},{"name":"Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Simil\u00e4","sequence":"additional","affiliation":[{"name":"Clinical Nutrition Unit, Internal Medicine and Rehabilitation, Helsinki University Hospital, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Tammepuu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0156-1614","authenticated-orcid":false,"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Auranen","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinikka","family":"Hiekkala","sequence":"additional","affiliation":[{"name":"The Finnish Association of People with Physical Disabilities, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Wallgren-Pettersson","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland"},{"name":"Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8594-2077","authenticated-orcid":false,"given":"Sonja","family":"Strang-Karlsson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,1]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/86.4.793"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.012"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm094"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.05.012"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22693"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.12.009"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.12.007"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.006"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00129-7"},{"key":"e_1_3_5_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02973-2"},{"key":"e_1_3_5_12_2","doi-asserted-by":"publisher","DOI":"10.1080\/14417040500459593"},{"key":"e_1_3_5_13_2","first-page":"1204","article-title":"Clinical course of dysphagia in patients with nemaline myopathy","volume":"9","author":"Yoo YJ","year":"2022","unstructured":"Yoo YJ, Shin BK, Yoon MJ, et al. 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