A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the NHL...

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Detaylı Bibliyografya
Yayımlandı:Hum Genome Var
Asıl Yazarlar: Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, Hirotomo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2018
Konular:
Data Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6043589/
https://ncbi.nlm.nih.gov/pubmed/30083360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0015-9
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