Titin mutation segregates with hereditary myopathy with early respiratory failure

In 2001, we described an autosomal dominant myopathy characterized by neuromuscular ventilatory failure in ambulant patients. Here we describe the underlying genetic basis for the disorder, and we define the neuromuscular, respiratory and radiological phenotype in a study of 31 mutation carriers fol...

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Bibliographic Details
Main Authors: Pfeffer, Gerald, Elliott, Hannah R., Griffin, Helen, Barresi, Rita, Miller, James, Marsh, Julie, Evilä, Anni, Vihola, Anna, Hackman, Peter, Straub, Volker, Dick, David J., Horvath, Rita, Santibanez-Koref, Mauro, Udd, Bjarne, Chinnery, Patrick F.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2012
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3359754/
https://ncbi.nlm.nih.gov/pubmed/22577215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws102
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