Titin Founder Mutation is a Common cause of Myofibrillar Myopathy with Early Respiratory Failure

OBJECTIVE: Titin gene (TTN) mutations have been described in 8 families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle...

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Bibliografiske detaljer
Udgivet i:J Neurol Neurosurg Psychiatry
Main Authors: Pfeffer, Gerald, Barresi, Rita, Wilson, Ian J, Hardy, Steven A, Griffin, Helen, Hudson, Judith, Elliott, Hannah R, Ramesh, Aravind V, Radunovic, Aleksandar, Winer, John, Vaidya, Sujit, Raman, Ashok, Busby, Mark, Farrugia, Maria E, Ming, Alec, Everett, Chris, Emsley, Hedley CA, Horvath, Rita, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, Chinnery, Patrick F, Sarkozy, Anna
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6558248/
https://ncbi.nlm.nih.gov/pubmed/23486992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-304728
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