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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha: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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