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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690190/
https://www.ncbi.nlm.nih.gov/pubmed/33239111
http://dx.doi.org/10.1186/s40478-020-01084-4

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