{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:36:32Z","timestamp":1792787792966,"version":"4.5.0"},"reference-count":43,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T00:00:00Z","timestamp":1785196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T00:00:00Z","timestamp":1785196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Instituto de Salud Carlos III","award":["PI22\/01382"],"award-info":[{"award-number":["PI22\/01382"]}],"id":[{"id":"https:\/\/ror.org\/00ca2c886","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Fundaci\u00f3n Noelia"},{"name":"Instituto de Salud Carlos III, Spain","award":["CP22\/00141"],"award-info":[{"award-number":["CP22\/00141"]}],"id":[{"id":"https:\/\/ror.org\/00ca2c886","id-type":"ROR","asserted-by":"crossref"}]},{"name":"NIH National Institute of Neurological Disorders and Stroke","id":[{"id":"https:\/\/ror.org\/01s5ya894","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:p>\n                    Collagen VI is a key component of the extracellular matrix. Murine models suggest that it regulates Schwann cell differentiation, peripheral nerve myelination and regeneration after injury. Neuropathic findings in\n                    <jats:italic toggle=\"yes\">COL6<\/jats:italic>\n                    -related dystrophies (COL6-RDs) have been rarely reported, often based on electromyography findings without nerve conduction abnormalities. We report 37 patients (1.5-79 years), from 32 different families, carrying the\n                    <jats:italic toggle=\"yes\">COL6A3<\/jats:italic>\n                    -c.7447A&gt;G variant, presenting with neuropathic\/neuromyopathic findings. Most patients presented in the first decade of life with an abnormal gait and frequent falls (54%), delayed motor milestones (32%) and foot deformities (19%). Predominant distal weakness was present in 46% of patients, whereas 27% exhibited proximo-distal involvement. Foot deformities were present in 32%; joint contractures were present in 83%, exclusively affecting lower limbs in 49%. At last evaluation, mild restrictive respiratory insufficiency was diagnosed in 1 patient and nocturnal hypoventilation requiring non-invasive ventilation in 2. Most patients (89%) remained ambulant at last assessment. Nerve conduction studies (n=29) revealed reduced lower-limb CMAP amplitudes in 79%. Needle EMG (n=31) revealed chronic neurogenic-like features in 84% and mixed neuromyogenic features in 13%. Muscle biopsy (n=12) demonstrated features suggestive of neuropathic involvement in 4 (33%) and mixed neuropathic-myopathic features in 5 (42%). Muscle imaging (n=23) revealed a typical COL6-RD pattern in 48% (with severe distal lower limb atrophy in 65%), and isolated or predominant distal atrophy in 30%. Inheritance was autosomal recessive in all cases. The\n                    <jats:italic toggle=\"yes\">COL6A3<\/jats:italic>\n                    -c.7447A&gt;G variant was present in homozygosity in 24 (65%) and in compound heterozygosity with a second\n                    <jats:italic toggle=\"yes\">COL6A3<\/jats:italic>\n                    variant in 13 (35%), including 8 previously unreported. We report an expanding phenotypic spectrum associated with COL6-RD, underscoring its relevance in the diagnostic evaluation of distal motor neuropathy-like or neuromyopathic presentations.\n                  <\/jats:p>","DOI":"10.1177\/22143602261453996","type":"journal-article","created":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T23:08:03Z","timestamp":1785280083000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with\n                    <i>COL6A3<\/i>\n                    c.7447A&gt;G"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6706-3506","authenticated-orcid":false,"given":"Rocio Nur","family":"Villar-Quiles","sequence":"first","affiliation":[{"name":"Assistance Publique des H\u00f4pitaux de Paris"},{"name":"Sorbonne Universit\u00e9-Inserm UMRS974"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Reghan","family":"Foley","sequence":"additional","affiliation":[{"name":"National Institutes of Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Metay","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9-Inserm UMRS974"},{"name":"Inserm UMRS ICAN Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rotem","family":"Orbach","sequence":"additional","affiliation":[{"name":"National Institutes of Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"National Institutes of Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Labella","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7764-2085","authenticated-orcid":false,"given":"Daniel","family":"Natera-de Benito","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u"},{"name":"ISCIII"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u"},{"name":"ISCIII"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berta","family":"Estevez-Arias","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Jimenez-Mallebrera","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u"},{"name":"ISCIII"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Dom\u00ednguez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"\u201812 de Octubre\u2019 Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Horga","sequence":"additional","affiliation":[{"name":"University Hospital San Carlos"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0578-9568","authenticated-orcid":false,"given":"Maria Itxaso","family":"Marti Carrera","sequence":"additional","affiliation":[{"name":"Hospital Donostia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Fernandez Torron","sequence":"additional","affiliation":[{"name":"Hospital Donostia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergei","family":"Kurbatov","sequence":"additional","affiliation":[{"name":"Voronezh State Medical University Named After N.N. Burdenko"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Chausova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9862-0273","authenticated-orcid":false,"given":"Dmitrii","family":"Subbotin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kuchina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Frezzati","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alzira","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Doen\u00e7as Neuromusculares da Faculdade de Medicina do ABC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Waschbisch","sequence":"additional","affiliation":[{"name":"University Hospital RWTH Aachen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Allamand","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9-Inserm UMRS974"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqun","family":"Zou","sequence":"additional","affiliation":[{"name":"National Institutes of Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"Inserm UMRS ICAN Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"National Institutes of Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Assistance Publique des H\u00f4pitaux de Paris"},{"name":"Sorbonne Universit\u00e9-Inserm UMRS974"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,28]]},"reference":[{"key":"e_1_3_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.06.005"},{"key":"e_1_3_8_3_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24065095"},{"key":"e_1_3_8_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.81"},{"issue":"19","key":"e_1_3_8_5_2","first-page":"3525","article-title":"Collagen VI at a glance","volume":"128","author":"Cescon M","year":"2015","unstructured":"Cescon M, Gattazzo F, Chen P, et al. Collagen VI at a glance. J Cell Sci 2015; 128(19): 3525\u20133531. https:\/\/doi.org\/10.1242\/JCS.169748","journal-title":"J Cell Sci"},{"key":"e_1_3_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2020.12.004"},{"issue":"6","key":"e_1_3_8_7_2","article-title":"Collagen VI in healthy and diseased nervous system","volume":"11","author":"Gregorio I","year":"2018","unstructured":"Gregorio I, Braghetta P, Bonaldo P, et al. Collagen VI in healthy and diseased nervous system. Dis Model Mech 2018; 11(6), PubMed PMID: 29728408. https:\/\/doi.org\/10.1242\/DMM.032946","journal-title":"Dis Model Mech"},{"issue":"4","key":"e_1_3_8_8_2","first-page":"487","article-title":"Type VI collagen. In situ hybridizations and immunohistochemistry reveal abundant mRNA and protein levels in human neurofibroma, schwannoma and normal peripheral nerve tissues","volume":"62","author":"Peltonen J","year":"1990","unstructured":"Peltonen J, Jaakkola S, Hsiao LL, et al. Type VI collagen. In situ hybridizations and immunohistochemistry reveal abundant mRNA and protein levels in human neurofibroma, schwannoma and normal peripheral nerve tissues. Lab Invest 1990; 62(4): 487\u2013492.","journal-title":"Lab Invest"},{"key":"e_1_3_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00005-0"},{"key":"e_1_3_8_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt284"},{"key":"e_1_3_8_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.01.004"},{"key":"e_1_3_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.142"},{"key":"e_1_3_8_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.03.010"},{"key":"e_1_3_8_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0000000000000198"},{"key":"e_1_3_8_15_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-200577"},{"key":"e_1_3_8_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09217-z"},{"key":"e_1_3_8_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011499"},{"key":"e_1_3_8_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_8_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.100"},{"key":"e_1_3_8_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32142"},{"key":"e_1_3_8_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21088"},{"key":"e_1_3_8_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10544"},{"key":"e_1_3_8_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.03.003"},{"key":"e_1_3_8_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22691"},{"key":"e_1_3_8_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-025-08124-8"},{"key":"e_1_3_8_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10100"},{"key":"e_1_3_8_27_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-018-0167-1"},{"key":"e_1_3_8_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22087"},{"key":"e_1_3_8_29_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15910"},{"key":"e_1_3_8_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcae377"},{"key":"e_1_3_8_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa418"},{"key":"e_1_3_8_32_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa420"},{"key":"e_1_3_8_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62953"},{"key":"e_1_3_8_34_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0052793"},{"key":"e_1_3_8_35_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513746200"},{"key":"e_1_3_8_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(01)00191-3"},{"key":"e_1_3_8_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(03)00968-2"},{"key":"e_1_3_8_38_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.13-239533"},{"key":"e_1_3_8_39_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv368"},{"key":"e_1_3_8_40_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaf399"},{"key":"e_1_3_8_41_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16063"},{"key":"e_1_3_8_42_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00640-x"},{"key":"e_1_3_8_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1756-0"},{"key":"e_1_3_8_44_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002324"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602261453996","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602261453996","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602261453996","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:50:29Z","timestamp":1790913029000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602261453996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,28]]},"references-count":43,"alternative-id":["10.1177\/22143602261453996"],"URL":"https:\/\/doi.org\/10.1177\/22143602261453996","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,28]]},"article-number":"22143602261453996"}}