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Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients
Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing. To date, &...
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| Publicado no: | Exp Ther Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6090448/ https://ncbi.nlm.nih.gov/pubmed/30112071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2018.6344 |
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