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Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy(1) (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T>C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis.
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3775691/ https://ncbi.nlm.nih.gov/pubmed/23940025 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a08d13 |
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