{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T13:59:46Z","timestamp":1781099986040,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T00:00:00Z","timestamp":1767484800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T00:00:00Z","timestamp":1767484800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH U54 NS053672"],"award-info":[{"award-number":["NIH U54 NS053672"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in\n                      <jats:italic>FKRP<\/jats:italic>\n                      . There is limited data to predict loss of ambulation (LOA) among those with LGMDR9.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with\n                      <jats:italic>FKRP<\/jats:italic>\n                      variants who had achieved ambulation and were more than 3\u2009years old were included (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200997). LOA was defined as self\u2010reported full\u2010time wheelchair use, weakness preventing completion of the 10\u2010m walk\u2010run test (10MWT) or 10MWT time &gt;\u200930\u2009s. Interval\u2010censored time\u2010to\u2010event analysis was used to determine median age at LOA. Receiver operating characteristic curves were used to examine the ability of 10MWT and 4\u2010stair climb (4SC) times to predict LOA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 97 participants, 55 (57%) were homozygous for the c.826C&gt;A founder variant. Thirty\u2010one participants lost ambulation; 15 (49%) were homozygous for c.826C&gt;A. Earliest age at LOA was 9\u2009years (non\u2010homozygous for c.826C&gt;A). Median age at LOA for the cohort was 46.0\u2009years. Performances on 10MWT and 4SC were highly predictive of LOA within 3\u2009years, with areas under the ROC curve of 0.89 (10MWT) and 0.87 (4SC) when genotype was included in analysis. Optimal cutoffs for predicting LOA within 3\u2009years differed by genotype and had acceptable sensitivity and specificity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>LOA among those with LGMDR9 is strongly predicted by performance on 10MWT and 4SC. These results demonstrate the real\u2010world significance of standardized motor function tests used in LGMDR9 clinical trials and aid in anticipatory guidance.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70299","type":"journal-article","created":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T07:31:02Z","timestamp":1767598262000},"page":"1154-1159","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy\n                    <scp>R9<\/scp>"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5550-6936","authenticated-orcid":false,"given":"Chandra L.","family":"Miller","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren N.","family":"Coffey","sequence":"additional","affiliation":[{"name":"University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelley R. H.","family":"Mockler","sequence":"additional","affiliation":[{"name":"Center for Disabilities and Development University of Iowa Health Care Stead Family Children's Hospital  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie M.","family":"Laubscher","sequence":"additional","affiliation":[{"name":"Center for Disabilities and Development University of Iowa Health Care Stead Family Children's Hospital  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie M.","family":"Stephan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Bridget","family":"Zimmerman","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, College of Public Health University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"},{"name":"Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2011.02.001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02814"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-024-00370-2"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-018-0163-0"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140047"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000235854.77716.6c"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.649"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000315"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.08.008"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010604"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0070993"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.774"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26334"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32160-8"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002891"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26161"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210771"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.11.005"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20824"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51042"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13597"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa228"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70299","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.70299","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T13:14:29Z","timestamp":1781097269000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,4]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/acn3.70299"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70299","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,4]]},"assertion":[{"value":"2025-10-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}