Yüklüyor......
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
OBJECTIVE: To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. METHODS: We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Lippincott Williams & Wilkins
2014
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4001208/ https://ncbi.nlm.nih.gov/pubmed/24610330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000295 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|