{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T20:27:29Z","timestamp":1770236849492,"version":"3.49.0"},"reference-count":11,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,7,16]]},"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:p>Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytoplasmatic bodies and rimmed vacuoles, suggestive of a hereditary myopathy with early respiratory failure disease. The genetic study confirmed this diagnosis identifying a heterozygous mutation on c.95134T&gt;C (p.Cys31712Arg) in exon 343 in the titin gene. The patient was discharged home under supportive treatment with non-invasive ventilation.<\/jats:p>","DOI":"10.1136\/bcr-2020-235378","type":"journal-article","created":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T03:38:11Z","timestamp":1599709091000},"page":"e235378","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Titinopathy, an atypical respiratory failure"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6588-9010","authenticated-orcid":false,"given":"Joana","family":"Morais","sequence":"first","affiliation":[{"name":"Internal Medicine, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8603-8020","authenticated-orcid":false,"given":"Ana Andrade","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Internal Medicine, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Pires","sequence":"additional","affiliation":[{"name":"Internal Medicine, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9835-0444","authenticated-orcid":false,"given":"In\u00eas","family":"Burmester","sequence":"additional","affiliation":[{"name":"Internal Medicine, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o","family":"Regadas","sequence":"additional","affiliation":[{"name":"Internal Medicine, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo","family":"Gouveia","sequence":"additional","affiliation":[{"name":"Internal Medicine, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,9,9]]},"reference":[{"key":"2025082702545793000_13.9.e235378.1","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.nmd.2017.12.002","article-title":"Hereditary myopathy with early respiratory failure (HMERF): still rare, but common enough","volume":"28","author":"Tasca","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"2025082702545793000_13.9.e235378.2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(90)90134-9"},{"key":"2025082702545793000_13.9.e235378.3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws102"},{"key":"2025082702545793000_13.9.e235378.4","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1007\/s00415-019-09187-2","article-title":"Expanding the importance of HMERF titinopathy: new mutations and clinical aspects","volume":"266","author":"Palmio","year":"2019","journal-title":"J Neurol"},{"key":"2025082702545793000_13.9.e235378.5","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-304965"},{"key":"2025082702545793000_13.9.e235378.6","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304728"},{"key":"2025082702545793000_13.9.e235378.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.07.269"},{"key":"2025082702545793000_13.9.e235378.8","doi-asserted-by":"crossref","unstructured":"Lai T , Goyal N , Mozaffar T . Hereditary myopathy with early respiratory failure (HMERF) in an Afghan woman: a case report. Neurology journal 2017;88.","DOI":"10.1212\/WNL.88.16_supplement.P2.134"},{"key":"2025082702545793000_13.9.e235378.9","doi-asserted-by":"crossref","unstructured":"Pfeffer Gerald , Povitz M , John Gibson G . Diagnosis of muscle diseases presenting with early respiratory failure. Jornal of Neurology 2014.","DOI":"10.1007\/s00415-014-7526-1"},{"key":"2025082702545793000_13.9.e235378.10","first-page":"460","article-title":"[Familial myopathy with \"cytoplasmic body\" (or \"spheroid\") type inclusions, disclosed by respiratory insufficiency]","volume":"145","author":"Chapon","year":"1989","journal-title":"Rev Neurol"},{"key":"2025082702545793000_13.9.e235378.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22611"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-235378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:55:05Z","timestamp":1756288505000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-235378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":11,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2020,9,9]]},"published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1136\/bcr-2020-235378"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-235378","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9]]}}}