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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Bibliografiska uppgifter
I publikationen:J Neurol Neurosurg Psychiatry
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
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Article
Länkar: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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