Llwytho...
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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Lippincott Williams & Wilkins
2014
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| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
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