{"id":1907,"date":"2023-11-05T21:04:30","date_gmt":"2023-11-05T21:04:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1907"},"modified":"2026-02-22T23:51:26","modified_gmt":"2026-02-22T23:51:26","slug":"non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/05\/non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy\/","title":{"rendered":"Non-coding CGG repeat expansion in LOC642361\/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy (Contributed by Drs. Zhaoxia Wang and Jianying Xi, on behalf of the authors)"},"content":{"rendered":"<p>Oculopharyngodistal myopathy (OPDM) is a rare neuromuscular disease characterized by progressive ptosis, ophthalmoparesis, facial\/bulbar and distal weakness. CGG repeat expansions in the 5\u2019 untranslated region of <em>LRP12<\/em>, <em>GIPC1<\/em>, <em>NOTCH2NLC<\/em> and <em>RILPL1<\/em> have been reported to cause OPDM. In this study, we identified CGG repeat expansion in the long non-coding RNA of <em>LOC642361\/NUTM2B-AS1<\/em> in 2 unrelated cases in a cohort of 94 unrelated OPDM patients. Both patients showed no leukoencephalopathy but one showed mild cognitive impairment. Muscle pathology revealed rimmed vacuoles and p62-positive intranuclear inclusions. Colocalization of CGG RNA foci with p62 was also found in the intranuclear inclusions of patient-derived fibroblasts. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/11\/03\/jmg-2023-109345\">https:\/\/jmg.bmj.com\/content\/early\/2023\/11\/03\/jmg-2023-109345<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Oculopharyngodistal myopathy (OPDM) is a rare neuromuscular disease characterized by progressive ptosis, ophthalmoparesis, facial\/bulbar and distal weakness. CGG repeat expansions in the 5\u2019 untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1 have been reported to cause OPDM. In this study, we identified CGG repeat expansion in the long non-coding RNA of LOC642361\/NUTM2B-AS1 in 2 unrelated [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/05\/non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1907","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Non-coding CGG repeat expansion in LOC642361\/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy (Contributed by Drs. Zhaoxia Wang and Jianying Xi, on behalf of the authors) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/05\/non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Non-coding CGG repeat expansion in LOC642361\/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy (Contributed by Drs. Zhaoxia Wang and Jianying Xi, on behalf of the authors) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Oculopharyngodistal myopathy (OPDM) is a rare neuromuscular disease characterized by progressive ptosis, ophthalmoparesis, facial\/bulbar and distal weakness. CGG repeat expansions in the 5\u2019 untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1 have been reported to cause OPDM. In this study, we identified CGG repeat expansion in the long non-coding RNA of LOC642361\/NUTM2B-AS1 in 2 unrelated [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/05\/non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-11-05T21:04:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:51:26+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/05\\\/non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/11\\\/05\\\/non-coding-cgg-repeat-expansion-in-loc642361-nutm2b-as1-is-associated-with-a-phenotype-of-oculopharyngodistal-myopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Non-coding CGG repeat expansion in LOC642361\\\/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy (Contributed by Drs. 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