CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifes...
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
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Author / Creator
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 and Nishino, Ichizo
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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
, have been reported to be causative for O...
Alternative Titles
Full title
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7690190
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7690190
Other Identifiers
ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-020-01084-4
