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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2020
נושאים:
Research
גישה מקוונת: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
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים