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A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure()
Hereditary myopathy with early respiratory failure is an autosomal dominant myopathy caused by mutations in the 119th fibronectin-3 domain of titin. To date all reported patients with the most common mutation in this domain (p.C30071R) appear to share ancestral disease alleles. We undertook this stu...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pergamon Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988992/ https://www.ncbi.nlm.nih.gov/pubmed/24444549 http://dx.doi.org/10.1016/j.nmd.2013.12.001 |