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...

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Detalles Bibliográficos
Autores principales: Pfeffer, Gerald, Sambuughin, Nyamkhishig, Olivé, Montse, Tyndel, Felix, Toro, Camilo, Goldfarb, Lev G., Chinnery, Patrick F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2014
Materias:
Article
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

Internet

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

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