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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Wydane w:J Neurol Neurosurg Psychiatry
Główni autorzy: 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
Język:Inglês
Wydane: 2014
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Article
Dostęp online: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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