GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy - Zeng, Yi‐Heng; Yang, Kang; Du, Gan‐Qin; Chen, Yi‐Kun; Cao, Chun‐Yan; Qiu, Yu‐Sen; He, Jin; Lv, Hai‐Dong; Qu, Qian‐Qian; Chen, Jian‐Nan; Xu, Guo‐Rong; Chen, Long; et al. (Annals of neurology, 2022)
Keywords: 5' Untranslated Regions; Antisense RNA; Biopsy; Chromosome 12; DNA-directed RNA polymerase; Epigenetics; Fluorescence; Fluorescence in situ hybridization; Foci; Founder effect; Immunoblotting; Immunofluorescence; Inclusion bodies; Inclusions; Linkage analysis; Loci; Methylation; Multiplexing; Muscles; Myopathy; Neuromuscular diseases; Ophthalmoplegia; Pathogenesis; Polymerase chain reaction; Ribonucleic acid; RNA; Staining; Toxicity; Transcription