Llwytho...
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs) in the m...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Hum Genet |
|---|---|
| Prif Awduron: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Elsevier
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7273532/ https://ncbi.nlm.nih.gov/pubmed/32413282 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.04.011 |
| Tagiau: |
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