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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Bibliographic Details
Main Authors: Pfeffer, Gerald, Sambuughin, Nyamkhishig, Olivé, Montse, Tyndel, Felix, Toro, Camilo, Goldfarb, Lev G., Chinnery, Patrick F.
Format: Artigo
Language:Inglês
Published: Pergamon Press 2014
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3988992/
https://ncbi.nlm.nih.gov/pubmed/24444549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.12.001
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