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A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects
INTRODUCTION: Mutations in the COL12A1 gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). METHODS: We describe...
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| Publié dans: | Muscle Nerve |
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| Auteurs principaux: | , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5236000/ https://ncbi.nlm.nih.gov/pubmed/27348394 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25232 |
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