{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nOculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disorder that, in several cases, has been linked to pathogenic CGG repeat expansions in noncoding regions of multiple genes. Although genes such as LRP12, GIPC1, NOTCH2NLC, and RILPL1 have been implicated, a subset of pathoclinically confirmed cases remains genetically unexplained."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRecent studies have identified CGG repeat expansions in LOC642361/NUTM2B-AS1 as a novel genetic cause underlying an oculopharyngeal myopathy phenotype. In a cohort from three unrelated families, repeat expansions ranging from 161 to 669 units were associated with clinical manifestations including ptosis, restricted eye movements, dysphagia, dysarthria, and diffuse limb muscle weakness. Muscle biopsies revealed a myopathic pattern, rimmed vacuoles, and filamentous intranuclear inclusions, while further analyses suggested that these repeat expansions may impair aggrephagy. This disrupted cellular clearance mechanism, potentially via RNA toxicity and resulting mitochondrial dysfunction, provides insights into disease pathogenesis and expands the known phenotypic spectrum associated with CGG repeat expansion in LOC642361/NUTM2B-AS1."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xinyu Gu, Jiaxi Yu, Kexin Jiao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Non-coding CGG repeat expansion in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "LOC642361/NUTM2B-AS1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " is associated with a phenotype of oculopharyngodistal myopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg-2023-109345"}], "href": "https://doi.org/10.1136/jmg-2023-109345"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37923380"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37923380"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yan Shi, Chunyan Cao, Yiheng Zeng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Genet Genomics (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jgg.2023.12.009"}], "href": "https://doi.org/10.1016/j.jgg.2023.12.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38159879"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38159879"}]}]}]}