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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Acta Neuropathol Commun
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BioMed Central 2020
Schlagworte:
Research
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge