CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 and GIPC1, hav...

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Bibliografske podrobnosti
izdano v:Acta Neuropathol Commun
Main Authors: Ogasawara, Masashi, Iida, Aritoshi, Kumutpongpanich, Theerawat, Ozaki, Ayami, Oya, Yasushi, Konishi, Hirofumi, Nakamura, Akinori, Abe, Ryuta, Takai, Hiroshi, Hanajima, Ritsuko, Doi, Hiroshi, Tanaka, Fumiaki, Nakamura, Hisayoshi, Nonaka, Ikuya, Wang, Zhaoxia, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690190/
https://ncbi.nlm.nih.gov/pubmed/33239111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-01084-4
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