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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Original Articles
Acesso em linha: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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