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It manifests itself as muscular dystrophy with eye and brain anomalies and intellectual disability. Previous clinical reports describe young patients. We have been able to follow two patients for almost 40\u2009years. Their clinical picture has remained quite stable since adolescence, appearing as severe intellectual and motor disability, extremely limited communication skills, visual impairment, epilepsy, joint contractures, repeated bowel obstructions, teeth abrasion due to bruxism, an irregular sleep pattern and as a previously unreported feature hypothermic periods manifesting as excessive sleepiness.<\/jats:p>","DOI":"10.1002\/ajmg.a.61369","type":"journal-article","created":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T12:45:06Z","timestamp":1570106706000},"page":"2481-2485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two middle\u2010aged women with the Finnish variant of muscle\u2010eye\u2010brain disease (MEB)"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2571-7118","authenticated-orcid":false,"given":"Maria","family":"Arvio","sequence":"first","affiliation":[{"name":"P\u00e4ij\u00e4t\u2010H\u00e4me Joint Municipal Authority, Neurology  Lahti Finland"},{"name":"Department of Genomics and Clinical Genetics Turku University Hospital  Turku Finland"},{"name":"PEDEGO, Oulu University Hospital  Oulu Finland"},{"name":"Southwest Special Care Municipal Authority  Paimio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"M\u00e4\u00e4tt\u00e4nen","sequence":"additional","affiliation":[{"name":"Department of Public Health Turku Clinical Research Centre  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Haanp\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Department of Genomics and Clinical Genetics Turku University Hospital  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaana","family":"L\u00e4hdetie","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Turku University Hospital  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2005.00492.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jar.12269"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-019-1470-2"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.020701"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvu066"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm212"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410208"},{"key":"e_1_2_6_9_1","first-page":"241","volume-title":"Brain, eye and muscle syndromes (In Finnish: Aivo\u2010, silm\u00e4\u2010 ja lihasoireyhtym\u00e4t; Lastenneurologia) in pediatric neurology","author":"Haltia M.","year":"1996"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2002.6608"},{"key":"e_1_2_6_11_1","unstructured":"NorioR.MEB. The genes of Lady Finland (2000) (In Finnish: Suomineidon geenit). Otava 249\u2013250."},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(94)00101-3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(89)80088-9"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/1090-3798(98)01004-1"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg043"},{"key":"e_1_2_6_16_1","first-page":"346","volume-title":"Lastenneurologia","author":"Vainionp\u00e4\u00e4 L.","year":"2004"},{"key":"e_1_2_6_17_1","unstructured":"VariloT.Genes in the population and special features of the changing Finnish population. (2016) (In Finnish: Geenit populaatiossa ja muuttuvan suomalaisen v\u00e4est\u00f6n erityispiirteet (L\u00e4\u00e4ketieteellinen Genetiikka Medical Genetics eds. Aittom\u00e4ki K. Moilanen J. & Perola M.) Duodecim 333."}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61369","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61369","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61369","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T10:50:49Z","timestamp":1693738249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61369"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,3]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1002\/ajmg.a.61369"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61369","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,3]]},"assertion":[{"value":"2019-05-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}