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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
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Original Articles
On-line přístup: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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